SLC22A12 — 331 ClinVar variants
All ClinVar germline SLC22A12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →
9 Pathogenic · 4 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 23 Conflicting · 35 Benign · 11 Benign/Likely benign · 65 Likely benign · 175 Uncertain significance
Full SLC22A12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 142
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
SLC22A12 p.Arg90His
Pathogenic
Multiple submitters
hereditary renal hypouricemia
-
SLC22A12 p.Thr217Met
Pathogenic/Likely pathogenic
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Arg406Cys
Likely pathogenic
Single submitter
hypouricemia, renal 1
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SLC22A12 p.Ala227Thr
Conflicting
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Arg124His
Conflicting
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Arg434His
Conflicting
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Gly366Arg
Conflicting
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Thr467Met
Conflicting
Single submitter
hypouricemia, renal 1
Predictors lean, ClinVar uncertain 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SLC22A12 p.Ala143Thr
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Ala226Val
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Ala359Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Ala373Val
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Ala447Val
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Ala476Asp
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Ala512Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Ala538Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Ala74Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Arg228Trp
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Arg325Trp
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Arg347Cys
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Arg487Gln
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Arg487Trp
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Asp525Asn
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Glu70Lys
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Gly155Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Gly159Glu
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Ile131Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Ile452Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Ile75Thr
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Leu459Arg
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Phe196Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Ser282Leu
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Thr424Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Thr542Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Trp294Gly
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Ala184Asp
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Ala229Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Ala411Thr
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Ala534Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Arg172Cys
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Arg172His
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Arg342His
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Arg349Gln
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Asp257Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Gln17His
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Gln332Arg
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Gln528Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC22A12 p.Glu429Lys Uncertain significance Single submitter
- SLC22A12 p.Glu517Lys Uncertain significance Single submitter
-
SLC22A12 p.Gly14Asp
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Gly295Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Gly331Asp
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Gly395Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Gly395Ser
Uncertain significance
Single submitter
hypouricemia, renal 1
- SLC22A12 p.Gly444Arg Uncertain significance Single submitter
-
SLC22A12 p.Gly479Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Gly490Ala
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.His402Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.His47Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.His540Arg
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Ile156Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Ile352Thr
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Ile454Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Leu153Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Leu292Pro
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Leu320Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Leu464Phe
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Leu471Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC22A12 p.Leu485Val Uncertain significance Single submitter
-
SLC22A12 p.Met183Val
Uncertain significance
Single submitter
hypouricemia, renal 1
- SLC22A12 p.Met22Thr Uncertain significance Single submitter
- SLC22A12 p.Met234Val Uncertain significance Single submitter
- SLC22A12 p.Met29Val Uncertain significance Single submitter
-
SLC22A12 p.Met394Ile
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Met430Thr
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Met430Val
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Phe270Cys
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Pro101Arg
Uncertain significance
Single submitter
hypouricemia, renal 1
- SLC22A12 p.Pro194Ser Uncertain significance Single submitter
-
SLC22A12 p.Pro231Thr
Uncertain significance
Single submitter
hypouricemia, renal 1
- SLC22A12 p.Pro268Ser Uncertain significance Single submitter
-
SLC22A12 p.Pro333Thr
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Pro52Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Pro69Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC22A12 p.Pro79Gln Uncertain significance Single submitter
-
SLC22A12 p.Ser179Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Ser242Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC22A12 p.Ser41Leu Uncertain significance Single submitter
-
SLC22A12 p.Ser550Tyr
Uncertain significance
Single submitter
hypouricemia, renal 1
- SLC22A12 p.Thr113Met Uncertain significance Single submitter
-
SLC22A12 p.Thr339Asn
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Thr518Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Trp120Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Trp224Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC22A12 p.Val138Met Uncertain significance Single submitter
-
SLC22A12 p.Val213Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Val311Met
Uncertain significance
Single submitter
hypouricemia, renal 1
- SLC22A12 p.Val388Met Uncertain significance Single submitter
-
SLC22A12 p.Val44Met
Uncertain significance
Single submitter
hypouricemia, renal 1
Predictors split 43
The independent predictors disagree with each other — read with care.
-
SLC22A12 p.Arg230Gln
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Arg406His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC22A12 p.Arg434Cys Uncertain significance Multiple submitters
-
SLC22A12 p.Arg92Cys
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Asp112Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Gly244Ser
Uncertain significance
Multiple submitters
hypouricemia, renal 1
- SLC22A12 p.Leu144Pro Uncertain significance Multiple submitters
-
SLC22A12 p.Ser125Asn
Uncertain significance
Multiple submitters
hypouricemia, renal 1
-
SLC22A12 p.Thr21Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Thr424Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Trp108Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC22A12 p.Ala184Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Ala209Val
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Ala335Asp
Uncertain significance
Single submitter
hypouricemia, renal 1
- SLC22A12 p.Arg256Gln Uncertain significance Single submitter
- SLC22A12 p.Arg256Trp Uncertain significance Single submitter
- SLC22A12 p.Arg284Gln Uncertain significance Single submitter
-
SLC22A12 p.Arg347His
Uncertain significance
Single submitter
hypouricemia, renal 1
- SLC22A12 p.Arg434Ser Uncertain significance Single submitter
- SLC22A12 p.Arg48Cys Uncertain significance Single submitter
-
SLC22A12 p.Arg89Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC22A12 p.Arg90Cys Uncertain significance Single submitter
-
SLC22A12 p.Asp140Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Asp55His
Uncertain significance
Single submitter
hypouricemia, renal 1
- SLC22A12 p.Cys272Arg Uncertain significance Single submitter
-
SLC22A12 p.Gly14Ser
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Gly444Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Ile481Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Leu205Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC22A12 p.Leu337Gln Uncertain significance Single submitter
-
SLC22A12 p.Leu341Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Met383Lys
Uncertain significance
Single submitter
hypouricemia, renal 1
- SLC22A12 p.Phe241Leu Uncertain significance Single submitter
-
SLC22A12 p.Phe358Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Phe358Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Pro146Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Pro522Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC22A12 p.Ser266Leu Uncertain significance Single submitter
- SLC22A12 p.Thr316Asn Uncertain significance Single submitter
-
SLC22A12 p.Thr58Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC22A12 p.Trp495Cys
Uncertain significance
Single submitter
hypouricemia, renal 1
-
SLC22A12 p.Gly361Val
Pathogenic
No assertion criteria
hypouricemia, renal 1
-
SLC22A12 p.Ser508Asn
Pathogenic
No assertion criteria
hypouricemia, renal 1
All SLC22A12 variants
Pathogenic 9
- c.506+1G>A Multiple submitters hypouricemia, renal 1
- p.Arg90His Multiple submitters hereditary renal hypouricemia ⚠
- p.Trp258Ter Multiple submitters SLC22A12-related disorder
- p.Thr248fs Single submitter
- p.Asp168Asn No assertion criteria hypouricemia, renal 1
- p.Glu298Asp No assertion criteria hypouricemia, renal 1
- p.Gly361Val No assertion criteria hypouricemia, renal 1 ⚠
- p.Leu418Arg No assertion criteria hypouricemia, renal 1
- p.Ser508Asn No assertion criteria hypouricemia, renal 1 ⚠
Pathogenic/Likely pathogenic 4
- p.Arg477fs Multiple submitters hypouricemia, renal 1
- p.Gln382Leu Multiple submitters hereditary renal hypouricemia
- p.Thr217Met Multiple submitters hypouricemia, renal 1 ⚠
- p.Trp357Ter Multiple submitters hypouricemia, renal 1
Likely pathogenic 9
- c.507-8_511del Multiple submitters hypouricemia, renal 1
- c.661+1G>A Single submitter
- p.Arg406Cys Single submitter hypouricemia, renal 1 ⚠
- p.Arg477His Single submitter
- p.Gln87Ter Single submitter hypouricemia, renal 1
- p.Glu223Ter Single submitter hypouricemia, renal 1
- p.Leu232fs Single submitter hypouricemia, renal 1
- p.Ser179fs Single submitter hypouricemia, renal 1
- p.Ser35fs Single submitter
Conflicting classifications of pathogenicity 23
- c.1285+6G>C Single submitter hypouricemia, renal 1
- c.-10A>C Single submitter hypouricemia, renal 1
- p.Ala190= Single submitter hypouricemia, renal 1
- p.Ala227Thr Single submitter hypouricemia, renal 1 ⚠
- p.Ala410= Single submitter hypouricemia, renal 1
- p.Arg124His Single submitter Inborn genetic diseases ⚠
- p.Arg434His Single submitter hypouricemia, renal 1 ⚠
- p.Arg465= Single submitter Inborn genetic diseases
- p.Asn306= Single submitter hypouricemia, renal 1
- p.Gly366Arg Single submitter hypouricemia, renal 1 ⚠
- p.Gly443= Single submitter
- p.Leu399= Single submitter hypouricemia, renal 1
- p.Leu418= Single submitter hypouricemia, renal 1
- p.Lys536_Gly541dup Single submitter
- p.Phe348= Single submitter hypouricemia, renal 1
- p.Pro524= Single submitter hypouricemia, renal 1
- p.Ser109= Single submitter hypouricemia, renal 1
- p.Ser266= Single submitter hypouricemia, renal 1
- p.Thr104= Single submitter hypouricemia, renal 1
- p.Thr188= Single submitter hypouricemia, renal 1
- p.Thr467Met Single submitter hypouricemia, renal 1 ⚠
- p.Thr503= Single submitter hypouricemia, renal 1
- p.Thr542= Single submitter hypouricemia, renal 1
Benign 35
- c.1071-33C>T Multiple submitters
- c.1071-98A>G Multiple submitters
- c.1285+227A>G Multiple submitters
- c.1285+65C>G Multiple submitters
- c.1286-103A>G Multiple submitters
- c.1286-188G>A Multiple submitters
- c.1598+18C>T Multiple submitters hypouricemia, renal 1
- c.830+109G>T Multiple submitters
- c.831-45T>C Multiple submitters hypouricemia, renal 1
- c.-220G>A Multiple submitters
- p.Ala416= Multiple submitters hypouricemia, renal 1
- p.His142= Multiple submitters hypouricemia, renal 1
- p.His86= Multiple submitters hypouricemia, renal 1
- c.1070+134G>C Single submitter
- c.1070+224A>G Single submitter
- c.1071-34A>C Single submitter
- c.1071-42_1071-41insCCA Single submitter
- c.1071-42del Single submitter
- c.1071-42dup Single submitter
- c.1598+260G>C Single submitter
- c.402+197C>T Single submitter
- c.403-237T>C Single submitter
- c.507-172C>T Single submitter
- c.507-247G>A Single submitter
- c.507-248C>T Single submitter
- c.507-254G>A Single submitter
- c.661+18C>T Single submitter
- c.831-192C>A Single submitter
- c.831-320C>A Single submitter
- c.*249GCCCT[3] Single submitter
- c.*268G>A Single submitter hypouricemia, renal 1
- c.*294del Single submitter
- c.*517G>A Single submitter
- p.Ala42= Single submitter
- p.Thr408= Single submitter
Benign/Likely benign 11
- c.1599-17G>A Multiple submitters hypouricemia, renal 1
- c.1599-17G>C Multiple submitters
- c.661+11G>A Multiple submitters hypouricemia, renal 1
- c.661+20C>T Multiple submitters hypouricemia, renal 1
- c.831-4T>C Multiple submitters hypouricemia, renal 1
- c.-234C>T Multiple submitters
- p.Ala476= Multiple submitters hypouricemia, renal 1
- p.Asn82= Multiple submitters
- p.Leu205= Multiple submitters hypouricemia, renal 1
- p.Pro497= Multiple submitters
- p.Ser41= Multiple submitters hypouricemia, renal 1
Likely benign 65
- c.662-7C>T Multiple submitters hypouricemia, renal 1
- p.Leu137= Multiple submitters
- p.Ser4= Multiple submitters hypouricemia, renal 1
- c.1070+15C>T Single submitter
- c.1071-42_1071-41insCA Single submitter
- c.1285+9G>T Single submitter
- c.1598+16C>T Single submitter
- c.1598+254C>A Single submitter
- c.1598+9A>G Single submitter
- c.1599-13G>A Single submitter
- c.402+14C>A Single submitter
- c.403-15C>T Single submitter
- c.506+14G>T Single submitter
- c.506+8C>A Single submitter
- c.507-4G>A Single submitter
- c.507-5C>T Single submitter
- c.661+16G>A Single submitter
- c.662-18C>G Single submitter
- c.662-19C>G Single submitter
- c.831-16G>A Single submitter
- c.954+13C>A Single submitter
- c.955-10G>A Single submitter
- c.955-11C>G Single submitter
- c.955-11C>T Single submitter
- c.955-19C>T Single submitter
- c.-45C>G Single submitter hypouricemia, renal 1
- c.*70G>A Single submitter hypouricemia, renal 1
- p.Ala162= Single submitter
- p.Ala193= Single submitter
- p.Ala226= Single submitter
- p.Ala43= Single submitter
- p.Arg173= Single submitter
- p.Arg342Cys Single submitter
- p.Arg349= Single submitter
- p.Asp112= Single submitter
- p.Cys163= Single submitter
- p.Gln93= Single submitter
- p.Gly309Arg Single submitter Inborn genetic diseases
- p.Gly331= Single submitter
- p.Gly338= Single submitter
- p.Gly361= Single submitter
- p.Gly395= Single submitter
- p.His492= Single submitter
- p.Ile131= Single submitter hypouricemia, renal 1
- p.Leu221= Single submitter
- p.Leu263= Single submitter
- p.Leu287= Single submitter
- p.Leu409= Single submitter
- p.Leu437= Single submitter
- p.Leu488= Single submitter
- p.Phe16= Single submitter
- p.Phe243= Single submitter
- p.Phe358= Single submitter
- p.Phe384= Single submitter
- p.Pro115= Single submitter
- p.Pro197= Single submitter
- p.Pro522= Single submitter
- p.Pro78= Single submitter
- p.Thr21= Single submitter
- p.Thr259Ala Single submitter Inborn genetic diseases
- p.Thr33= Single submitter
- p.Thr424= Single submitter
- p.Thr58= Single submitter
- p.Tyr253= Single submitter
- p.Ala511= No assertion criteria SLC22A12-related disorder
Uncertain significance 175
- p.Ala143Thr Multiple submitters hypouricemia, renal 1 ⚠
- p.Ala226Val Multiple submitters hypouricemia, renal 1 ⚠
- p.Ala359Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala373Val Multiple submitters hypouricemia, renal 1 ⚠
- p.Ala447Val Multiple submitters hypouricemia, renal 1 ⚠
- p.Ala476Asp Multiple submitters hypouricemia, renal 1 ⚠
- p.Ala512Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala538Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala74Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg228Trp Multiple submitters hypouricemia, renal 1 ⚠
- p.Arg230Gln Multiple submitters hypouricemia, renal 1 ⚠
- p.Arg325Trp Multiple submitters hypouricemia, renal 1 ⚠
- p.Arg347Cys Multiple submitters hypouricemia, renal 1 ⚠
- p.Arg406His Multiple submitters Inborn genetic diseases ⚠
- p.Arg434Cys Multiple submitters ⚠
- p.Arg487Gln Multiple submitters hypouricemia, renal 1 ⚠
- p.Arg487Trp Multiple submitters hypouricemia, renal 1 ⚠
- p.Arg92Cys Multiple submitters hypouricemia, renal 1 ⚠
- p.Asp112Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp525Asn Multiple submitters hypouricemia, renal 1 ⚠
- p.Glu70Lys Multiple submitters hypouricemia, renal 1 ⚠
- p.Gly155Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly159Glu Multiple submitters hypouricemia, renal 1 ⚠
- p.Gly244Ser Multiple submitters hypouricemia, renal 1 ⚠
- p.Gly366Ser Multiple submitters Inborn genetic diseases
- p.Ile131Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile452Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ile75Thr Multiple submitters hypouricemia, renal 1 ⚠
- p.Leu144Pro Multiple submitters ⚠
- p.Leu459Arg Multiple submitters hypouricemia, renal 1 ⚠
- p.Phe196Cys Multiple submitters Inborn genetic diseases ⚠
- p.Pro78Leu Multiple submitters hypouricemia, renal 1
- p.Ser125Asn Multiple submitters hypouricemia, renal 1 ⚠
- p.Ser282Leu Multiple submitters hypouricemia, renal 1 ⚠
- p.Thr21Lys Multiple submitters Inborn genetic diseases ⚠
- p.Thr424Lys Multiple submitters Inborn genetic diseases ⚠
- p.Thr424Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr542Met Multiple submitters Inborn genetic diseases ⚠
- p.Trp108Arg Multiple submitters Inborn genetic diseases ⚠
- p.Trp294Gly Multiple submitters hypouricemia, renal 1 ⚠
- c.1071-12C>A Single submitter hypouricemia, renal 1
- c.1395-11T>C Single submitter hypouricemia, renal 1
- c.1599-9C>T Single submitter hypouricemia, renal 1
- c.661+9C>G Single submitter hypouricemia, renal 1
- c.954+6G>T Single submitter hypouricemia, renal 1
- c.-248G>A Single submitter
- c.-310A>C Single submitter hypouricemia, renal 1
- c.-332A>G Single submitter hypouricemia, renal 1
- c.-37A>C Single submitter hypouricemia, renal 1
- c.-93C>T Single submitter hypouricemia, renal 1
- c.*129C>T Single submitter hypouricemia, renal 1
- c.*151G>A Single submitter hypouricemia, renal 1
- c.*240C>T Single submitter hypouricemia, renal 1
- c.*397C>T Single submitter hypouricemia, renal 1
- c.*553A>T Single submitter hypouricemia, renal 1
- c.*616T>C Single submitter hypouricemia, renal 1
- c.*626G>A Single submitter hypouricemia, renal 1
- c.*643A>G Single submitter hypouricemia, renal 1
- c.*741G>A Single submitter hypouricemia, renal 1
- c.*750C>T Single submitter hypouricemia, renal 1
- p.Ala184Asp Single submitter hypouricemia, renal 1 ⚠
- p.Ala184Ser Single submitter Inborn genetic diseases ⚠
- p.Ala209Val Single submitter hypouricemia, renal 1 ⚠
- p.Ala229Val Single submitter Inborn genetic diseases ⚠
- p.Ala335= Single submitter hypouricemia, renal 1
- p.Ala335Asp Single submitter hypouricemia, renal 1 ⚠
- p.Ala411Thr Single submitter hypouricemia, renal 1 ⚠
- p.Ala416_Gly417insAla Single submitter hypouricemia, renal 1
- p.Ala511Pro Single submitter hypouricemia, renal 1
- p.Ala534Ser Single submitter Inborn genetic diseases ⚠
- p.Arg15Met Single submitter hypouricemia, renal 1
- p.Arg172Cys Single submitter hypouricemia, renal 1 ⚠
- p.Arg172His Single submitter hypouricemia, renal 1 ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg256Trp Single submitter ⚠
- p.Arg284Gln Single submitter ⚠
- p.Arg342His Single submitter hypouricemia, renal 1 ⚠
- p.Arg347His Single submitter hypouricemia, renal 1 ⚠
- p.Arg349Gln Single submitter hypouricemia, renal 1 ⚠
- p.Arg434Ser Single submitter ⚠
- p.Arg48Cys Single submitter ⚠
- p.Arg89Pro Single submitter Inborn genetic diseases ⚠
- p.Arg90Cys Single submitter ⚠
- p.Asn136Lys Single submitter
- p.Asp140Val Single submitter Inborn genetic diseases ⚠
- p.Asp257Glu Single submitter Inborn genetic diseases ⚠
- p.Asp529His Single submitter Inborn genetic diseases
- p.Asp55His Single submitter hypouricemia, renal 1 ⚠
- p.Cys272Arg Single submitter ⚠
- p.Gln17His Single submitter hypouricemia, renal 1 ⚠
- p.Gln332Arg Single submitter hypouricemia, renal 1 ⚠
- p.Gln528Lys Single submitter Inborn genetic diseases ⚠
- p.Glu429Lys Single submitter ⚠
- p.Glu517Lys Single submitter ⚠
- p.Gly14Asp Single submitter hypouricemia, renal 1 ⚠
- p.Gly14Ser Single submitter hypouricemia, renal 1 ⚠
- p.Gly295Asp Single submitter Inborn genetic diseases ⚠
- p.Gly331Asp Single submitter hypouricemia, renal 1 ⚠
- p.Gly366= Single submitter hypouricemia, renal 1
- p.Gly395Asp Single submitter Inborn genetic diseases ⚠
- p.Gly395Ser Single submitter hypouricemia, renal 1 ⚠
- p.Gly444Arg Single submitter ⚠
- p.Gly444Val Single submitter Inborn genetic diseases ⚠
- p.Gly479Arg Single submitter Inborn genetic diseases ⚠
- p.Gly490Ala Single submitter hypouricemia, renal 1 ⚠
- p.His402Pro Single submitter Inborn genetic diseases ⚠
- p.His428= Single submitter hypouricemia, renal 1
- p.His47Pro Single submitter Inborn genetic diseases ⚠
- p.His540Arg Single submitter hypouricemia, renal 1 ⚠
- p.Ile156Met Single submitter Inborn genetic diseases ⚠
- p.Ile352Thr Single submitter hypouricemia, renal 1 ⚠
- p.Ile454Thr Single submitter Inborn genetic diseases ⚠
- p.Ile481Thr Single submitter Inborn genetic diseases ⚠
- p.Ile527Thr Single submitter hypouricemia, renal 1
- p.Leu153Pro Single submitter Inborn genetic diseases ⚠
- p.Leu201= Single submitter hypouricemia, renal 1
- p.Leu205Pro Single submitter Inborn genetic diseases ⚠
- p.Leu263Pro Single submitter Inborn genetic diseases
- p.Leu292Pro Single submitter hypouricemia, renal 1 ⚠
- p.Leu320Ser Single submitter Inborn genetic diseases ⚠
- p.Leu337Gln Single submitter ⚠
- p.Leu341Arg Single submitter Inborn genetic diseases ⚠
- p.Leu464Phe Single submitter hypouricemia, renal 1 ⚠
- p.Leu471Phe Single submitter Inborn genetic diseases ⚠
- p.Leu485Val Single submitter ⚠
- p.Leu54= Single submitter hypouricemia, renal 1
- p.Lys134Asn Single submitter hypouricemia, renal 1
- p.Met183Val Single submitter hypouricemia, renal 1 ⚠
- p.Met22Thr Single submitter ⚠
- p.Met234Val Single submitter ⚠
- p.Met29Val Single submitter ⚠
- p.Met383Lys Single submitter hypouricemia, renal 1 ⚠
- p.Met394Ile Single submitter hypouricemia, renal 1 ⚠
- p.Met430Thr Single submitter hypouricemia, renal 1 ⚠
- p.Met430Val Single submitter hypouricemia, renal 1 ⚠
- p.Phe241Leu Single submitter ⚠
- p.Phe270Cys Single submitter hypouricemia, renal 1 ⚠
- p.Phe358Leu Single submitter Inborn genetic diseases ⚠
- p.Phe358Ser Single submitter Inborn genetic diseases ⚠
- p.Pro101Arg Single submitter hypouricemia, renal 1 ⚠
- p.Pro146Thr Single submitter Inborn genetic diseases ⚠
- p.Pro194Ser Single submitter ⚠
- p.Pro231Thr Single submitter hypouricemia, renal 1 ⚠
- p.Pro268Ser Single submitter ⚠
- p.Pro333Thr Single submitter hypouricemia, renal 1 ⚠
- p.Pro522Ser Single submitter Inborn genetic diseases ⚠
- p.Pro52Thr Single submitter Inborn genetic diseases ⚠
- p.Pro69Ser Single submitter Inborn genetic diseases ⚠
- p.Pro79= Single submitter hereditary renal hypouricemia
- p.Pro79Gln Single submitter ⚠
- p.Ser179Asn Single submitter Inborn genetic diseases ⚠
- p.Ser242Gly Single submitter Inborn genetic diseases ⚠
- p.Ser266Leu Single submitter ⚠
- p.Ser282= Single submitter
- p.Ser41Leu Single submitter ⚠
- p.Ser550Tyr Single submitter hypouricemia, renal 1 ⚠
- p.Thr113Met Single submitter ⚠
- p.Thr217Arg Single submitter hypouricemia, renal 1
- p.Thr316Asn Single submitter ⚠
- p.Thr339Asn Single submitter hypouricemia, renal 1 ⚠
- p.Thr354= Single submitter hypouricemia, renal 1
- p.Thr450Ile Single submitter hypouricemia, renal 1
- p.Thr518Ile Single submitter Inborn genetic diseases ⚠
- p.Thr58Met Single submitter Inborn genetic diseases ⚠
- p.Trp120Arg Single submitter Inborn genetic diseases ⚠
- p.Trp224Arg Single submitter Inborn genetic diseases ⚠
- p.Trp278Cys Single submitter hypouricemia, renal 1
- p.Trp495Cys Single submitter hypouricemia, renal 1 ⚠
- p.Val138Leu Single submitter hypouricemia, renal 1
- p.Val138Met Single submitter ⚠
- p.Val213Leu Single submitter Inborn genetic diseases ⚠
- p.Val311Met Single submitter hypouricemia, renal 1 ⚠
- p.Val388Met Single submitter ⚠
- p.Val44Met Single submitter hypouricemia, renal 1 ⚠
- p.Val121fs No assertion criteria