SLCO1B3 — 300 ClinVar variants
All ClinVar germline SLCO1B3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 137 flagged for review →
3 Pathogenic · 4 Likely pathogenic · 12 Conflicting · 50 Benign · 6 Benign/Likely benign · 46 Likely benign · 179 Uncertain significance
Full SLCO1B3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 137
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 agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SLCO1B3 p.Arg23Cys
Conflicting
Single submitter
Rotor syndrome
-
SLCO1B3 p.Asn145Ser
Conflicting
Single submitter
Rotor syndrome
-
SLCO1B3 p.Cys162Gly
Conflicting
Single submitter
Rotor syndrome
-
SLCO1B3 p.Ser112Tyr
Conflicting
Single submitter
Rotor syndrome
-
SLCO1B3 p.Val560Ala
Conflicting
Single submitter
Rotor syndrome
Predictors lean, ClinVar uncertain 108
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SLCO1B3 p.Ala571Gly
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Asn702Ser
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Gly437Ser
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Ile215Met
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Ile383Val
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Ile52Val
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Ile615Val
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Leu456Phe
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Phe59Ser
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Pro455Arg
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Ser135Leu
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Tyr537Cys
Uncertain significance
Multiple submitters
Rotor syndrome
- SLCO1B3 p.Ala200Pro Uncertain significance Single submitter
- SLCO1B3 p.Ala33Thr Uncertain significance Single submitter
- SLCO1B3 p.Ala539Pro Uncertain significance Single submitter
-
SLCO1B3 p.Ala609Thr
Uncertain significance
Single submitter
SLCO1B3-related disorder
-
SLCO1B3 p.Arg181Cys
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Arg253Cys
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Arg253His
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Arg663Gly Uncertain significance Single submitter
-
SLCO1B3 p.Asn151Ser
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Asn284Ser Uncertain significance Single submitter
- SLCO1B3 p.Asn445Ser Uncertain significance Single submitter
- SLCO1B3 p.Asn528Ser Uncertain significance Single submitter
- SLCO1B3 p.Asn661Ser Uncertain significance Single submitter
- SLCO1B3 p.Asn675Ser Uncertain significance Single submitter
-
SLCO1B3 p.Asp161Asn
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Asp2Asn Uncertain significance Single submitter
- SLCO1B3 p.Asp304Val Uncertain significance Single submitter
- SLCO1B3 p.Asp60Asn Uncertain significance Single submitter
- SLCO1B3 p.Asp697Gly Uncertain significance Single submitter
- SLCO1B3 p.Cys430Tyr Uncertain significance Single submitter
- SLCO1B3 p.Cys474Ser Uncertain significance Single submitter
- SLCO1B3 p.Cys489Arg Uncertain significance Single submitter
- SLCO1B3 p.Cys599Arg Uncertain significance Single submitter
- SLCO1B3 p.Glu156Ala Uncertain significance Single submitter
-
SLCO1B3 p.Glu431Lys
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Gly100Ser Uncertain significance Single submitter
- SLCO1B3 p.Gly184Arg Uncertain significance Single submitter
- SLCO1B3 p.Gly216Val Uncertain significance Single submitter
- SLCO1B3 p.Gly324Val Uncertain significance Single submitter
- SLCO1B3 p.Gly368Ser Uncertain significance Single submitter
- SLCO1B3 p.Gly394Arg Uncertain significance Single submitter
- SLCO1B3 p.Gly44Ser Uncertain significance Single submitter
- SLCO1B3 p.Gly494Arg Uncertain significance Single submitter
-
SLCO1B3 p.Gly76Val
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Gly88Val
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Gly98Arg Uncertain significance Single submitter
-
SLCO1B3 p.His520Pro
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Ile157Met
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Ile247Lys Uncertain significance Single submitter
- SLCO1B3 p.Ile381Val Uncertain significance Single submitter
- SLCO1B3 p.Ile417Met Uncertain significance Single submitter
- SLCO1B3 p.Ile47Phe Uncertain significance Single submitter
-
SLCO1B3 p.Ile50Val
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Ile562Thr
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Ile61Met Uncertain significance Single submitter
- SLCO1B3 p.Ile641Thr Uncertain significance Single submitter
- SLCO1B3 p.Leu226Met Uncertain significance Single submitter
- SLCO1B3 p.Leu260Ile Uncertain significance Single submitter
- SLCO1B3 p.Leu333Ile Uncertain significance Single submitter
- SLCO1B3 p.Leu333Phe Uncertain significance Single submitter
- SLCO1B3 p.Leu346Phe Uncertain significance Single submitter
-
SLCO1B3 p.Leu438Pro
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Leu628Phe
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Leu674Ile
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Lys398Ile Uncertain significance Single submitter
-
SLCO1B3 p.Lys409Arg
Uncertain significance
Single submitter
SLCO1B3-related disorder
-
SLCO1B3 p.Lys533Arg
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Lys648Arg Uncertain significance Single submitter
-
SLCO1B3 p.Lys664Asn
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Lys9Thr
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Met179Ile Uncertain significance Single submitter
- SLCO1B3 p.Met233Leu Uncertain significance Single submitter
- SLCO1B3 p.Met647Val Uncertain significance Single submitter
- SLCO1B3 p.Met666Ile Uncertain significance Single submitter
- SLCO1B3 p.Met666Thr Uncertain significance Single submitter
-
SLCO1B3 p.Phe268Cys
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Phe325Ile
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Phe400Leu
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Phe421Ser Uncertain significance Single submitter
-
SLCO1B3 p.Pro187Arg
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Pro249Ser Uncertain significance Single submitter
-
SLCO1B3 p.Pro455Ala
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Pro682His Uncertain significance Single submitter
- SLCO1B3 p.Ser149Pro Uncertain significance Single submitter
- SLCO1B3 p.Ser331Gly Uncertain significance Single submitter
- SLCO1B3 p.Ser63Pro Uncertain significance Single submitter
- SLCO1B3 p.Thr106Ala Uncertain significance Single submitter
- SLCO1B3 p.Thr127Ser Uncertain significance Single submitter
- SLCO1B3 p.Thr186Ala Uncertain significance Single submitter
-
SLCO1B3 p.Thr186Asn
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Thr244Ser
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Thr319Ser
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Thr581Ala
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Tyr120His Uncertain significance Single submitter
-
SLCO1B3 p.Tyr425Cys
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Val235Met Uncertain significance Single submitter
- SLCO1B3 p.Val255Phe Uncertain significance Single submitter
- SLCO1B3 p.Val349Leu Uncertain significance Single submitter
-
SLCO1B3 p.Val578Leu
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Val619Ile
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Val681Ile Uncertain significance Single submitter
- SLCO1B3 p.Val80Leu Uncertain significance Single submitter
-
SLCO1B3 p.Asp443Gly
Uncertain significance
No assertion criteria
SLCO1B3-related disorder
-
SLCO1B3 p.Ser415Leu
Uncertain significance
No assertion criteria
SLCO1B3-related disorder
-
SLCO1B3 p.Thr385Met
Uncertain significance
No assertion criteria
SLCO1B3-related disorder
-
SLCO1B3 p.Thr550Ala
Uncertain significance
No assertion criteria
SLCO1B3-related disorder
Predictors split 24
The independent predictors disagree with each other — read with care.
-
SLCO1B3 p.Gly406Glu
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Leu402Ser
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Lys330Glu
Uncertain significance
Multiple submitters
Rotor syndrome
-
SLCO1B3 p.Asn335Ser
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Asp241His Uncertain significance Single submitter
-
SLCO1B3 p.Cys162Tyr
Uncertain significance
Single submitter
SLCO1B3-related disorder
- SLCO1B3 p.Gly216Arg Uncertain significance Single submitter
- SLCO1B3 p.Gly238Ala Uncertain significance Single submitter
-
SLCO1B3 p.Gly478Arg
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Gly478Glu
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Gly584Arg Uncertain significance Single submitter
- SLCO1B3 p.Lys409Glu Uncertain significance Single submitter
-
SLCO1B3 p.Lys49Asn
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Met577Lys Uncertain significance Single submitter
- SLCO1B3 p.Phe352Leu Uncertain significance Single submitter
- SLCO1B3 p.Ser166Phe Uncertain significance Single submitter
- SLCO1B3 p.Ser89Tyr Uncertain significance Single submitter
-
SLCO1B3 p.Thr414Asn
Uncertain significance
Single submitter
Rotor syndrome
-
SLCO1B3 p.Tyr173Cys
Uncertain significance
Single submitter
Rotor syndrome
- SLCO1B3 p.Tyr502Cys Uncertain significance Single submitter
- SLCO1B3 p.Tyr625Cys Uncertain significance Single submitter
-
SLCO1B3 p.Val255Leu
Uncertain significance
Single submitter
SLCO1B3-related disorder
-
SLCO1B3 p.Met170Thr
Uncertain significance
No assertion criteria
SLCO1B3-related disorder
-
SLCO1B3 p.Phe574Leu
Uncertain significance
No assertion criteria
SLCO1B3-related disorder
All SLCO1B3 variants
Pathogenic 3
- c.1747+1G>A Multiple submitters SLCO1B3-related disorder
- c.971-2A>G Single submitter Rotor syndrome
- p.Leu546fs Single submitter Rotor syndrome
Likely pathogenic 4
- c.1135+1G>A Multiple submitters Rotor syndrome
- c.481+1G>C Single submitter Rotor syndrome
- c.727+1_727+2delinsA Single submitter Rotor syndrome
- p.Pro280fs Single submitter SLCO1B3-related disorder
Conflicting classifications of pathogenicity 12
- p.Arg181His Single submitter Rotor syndrome
- p.Arg23Cys Single submitter Rotor syndrome ⚠
- p.Asn145Ser Single submitter Rotor syndrome ⚠
- p.Asp70fs Single submitter Rotor syndrome
- p.Cys162Gly Single submitter Rotor syndrome ⚠
- p.Leu424= Single submitter Rotor syndrome
- p.Ser112Tyr Single submitter Rotor syndrome ⚠
- p.Thr153= Single submitter Rotor syndrome
- p.Thr531= Single submitter Rotor syndrome
- p.Tyr358= Single submitter Rotor syndrome
- p.Tyr367= Single submitter Rotor syndrome
- p.Val560Ala Single submitter Rotor syndrome ⚠
Benign 50
- c.1135+150A>G Multiple submitters
- c.1136-128T>G Multiple submitters
- c.1498-82T>G Multiple submitters
- c.1747+55C>T Multiple submitters
- c.227-63T>C Multiple submitters
- c.227-77A>G Multiple submitters
- c.359+308C>T Multiple submitters
- c.359+76G>A Multiple submitters
- c.360-3C>T Multiple submitters Rotor syndrome
- c.481+67C>G Multiple submitters
- c.481+91T>A Multiple submitters
- c.629-80A>G Multiple submitters
- c.728-76T>C Multiple submitters
- c.84+124A>T Multiple submitters
- c.84+72C>T Multiple submitters
- c.-180-7T>G Multiple submitters Rotor syndrome
- c.-241G>A Multiple submitters Rotor syndrome
- c.-28_-11del Multiple submitters Rotor syndrome
- c.-90C>T Multiple submitters Rotor syndrome
- c.*548A>T Multiple submitters Rotor syndrome
- p.Ala519= Multiple submitters Rotor syndrome
- p.Arg253= Multiple submitters Rotor syndrome
- p.Gly256Ala Multiple submitters Rotor syndrome
- p.Gly611= Multiple submitters Rotor syndrome
- p.Met233Ile Multiple submitters Rotor syndrome
- p.Ser112Ala Multiple submitters Rotor syndrome
- p.Ser659= Multiple submitters Rotor syndrome
- c.1135+206_1135+228del Single submitter
- c.1135+283A>G Single submitter
- c.1136-197C>T Single submitter
- c.1498-184T>C Single submitter
- c.1498-250A>G Single submitter
- c.1682+147A>C Single submitter
- c.1682+250_1682+253del Single submitter
- c.1866-239C>T Single submitter
- c.226+253T>G Single submitter
- c.227-138T>C Single submitter
- c.360-273A>G Single submitter
- c.360-310A>C Single submitter
- c.360-320C>T Single submitter
- c.481+271C>T Single submitter
- c.482-103C>G Single submitter
- c.482-141C>A Single submitter
- c.482-207G>T Single submitter
- c.482-271G>T Single submitter
- c.482-300C>G Single submitter
- c.971-124G>A Single submitter
- c.*627G>A Single submitter Rotor syndrome
- c.*642G>A Single submitter Rotor syndrome
- c.727+2087T>C No assertion criteria Gilbert syndrome
Benign/Likely benign 6
- p.Ala449= Multiple submitters Rotor syndrome
- p.Arg23= Multiple submitters Rotor syndrome
- p.Leu226Val Multiple submitters Rotor syndrome
- p.Leu267= Multiple submitters Rotor syndrome
- p.Thr147Ala Multiple submitters Rotor syndrome
- p.Val619= Multiple submitters Rotor syndrome
Likely benign 46
- c.727+7A>G Multiple submitters Rotor syndrome
- p.Thr414Ile Multiple submitters Rotor syndrome
- p.Val538= Multiple submitters Rotor syndrome
- c.1865+15A>G Single submitter
- c.481+12_481+25del Single submitter Rotor syndrome
- c.481+3A>G Single submitter Rotor syndrome
- c.481+7A>G Single submitter Rotor syndrome
- p.Ala658= Single submitter Rotor syndrome
- p.Asp596= Single submitter
- p.Gln422His Single submitter
- p.Gly488= Single submitter Rotor syndrome
- p.Gly552Ser Single submitter
- p.Gly88= Single submitter Rotor syndrome
- p.His169Tyr Single submitter
- p.Leu639= Single submitter
- p.Lys561= Single submitter
- p.Pro280= Single submitter Rotor syndrome
- p.Ser603= Single submitter Rotor syndrome
- p.Ser659Leu Single submitter
- c.1136-13_1136-9del No assertion criteria SLCO1B3-related disorder
- c.1136-4C>T No assertion criteria SLCO1B3-related disorder
- c.1136-6T>A No assertion criteria SLCO1B3-related disorder
- c.1498-9del No assertion criteria SLCO1B3-related disorder
- c.1865+10C>T No assertion criteria SLCO1B3-related disorder
- c.1866-9T>C No assertion criteria SLCO1B3-related disorder
- c.226+5C>T No assertion criteria SLCO1B3-related disorder
- c.227-5dup No assertion criteria SLCO1B3-related disorder
- c.482-10G>T No assertion criteria SLCO1B3-related disorder
- p.Asn605= No assertion criteria SLCO1B3-related disorder
- p.Asp660= No assertion criteria SLCO1B3-related disorder
- p.Cys430= No assertion criteria SLCO1B3-related disorder
- p.Gln652= No assertion criteria SLCO1B3-related disorder
- p.Gly100= No assertion criteria SLCO1B3-related disorder
- p.Ile47del No assertion criteria SLCO1B3-related disorder
- p.Leu420Val No assertion criteria SLCO1B3-related disorder
- p.Leu558= No assertion criteria SLCO1B3-related disorder
- p.Lys316= No assertion criteria SLCO1B3-related disorder
- p.Met572Val No assertion criteria SLCO1B3-related disorder
- p.Phe356= No assertion criteria SLCO1B3-related disorder
- p.Phe621= No assertion criteria SLCO1B3-related disorder
- p.Pro114= No assertion criteria SLCO1B3-related disorder
- p.Ser355= No assertion criteria SLCO1B3-related disorder
- p.Ser457= No assertion criteria SLCO1B3-related disorder
- p.Ser51= No assertion criteria SLCO1B3-related disorder
- p.Tyr234= No assertion criteria SLCO1B3-related disorder
- p.Val163= No assertion criteria SLCO1B3-related disorder
Uncertain significance 179
- c.*136C>T Multiple submitters Rotor syndrome
- p.Ala571Gly Multiple submitters Rotor syndrome ⚠
- p.Asn702Ser Multiple submitters Rotor syndrome ⚠
- p.Asp198Asn Multiple submitters Rotor syndrome
- p.Gly406Glu Multiple submitters Rotor syndrome ⚠
- p.Gly437Ser Multiple submitters Rotor syndrome ⚠
- p.Ile215Met Multiple submitters Rotor syndrome ⚠
- p.Ile383Val Multiple submitters Rotor syndrome ⚠
- p.Ile52Val Multiple submitters Rotor syndrome ⚠
- p.Ile615Val Multiple submitters Rotor syndrome ⚠
- p.Leu402Ser Multiple submitters Rotor syndrome ⚠
- p.Leu456Phe Multiple submitters Rotor syndrome ⚠
- p.Lys330Glu Multiple submitters Rotor syndrome ⚠
- p.Phe59Ser Multiple submitters Rotor syndrome ⚠
- p.Pro455Arg Multiple submitters Rotor syndrome ⚠
- p.Ser135Leu Multiple submitters Rotor syndrome ⚠
- p.Tyr537Cys Multiple submitters Rotor syndrome ⚠
- c.1135+8A>G Single submitter Rotor syndrome
- c.1332-15A>G Single submitter Rotor syndrome
- c.1747+3A>G Single submitter Rotor syndrome
- c.1747+5G>A Single submitter Rotor syndrome
- c.1748-12C>T Single submitter Rotor syndrome
- c.1865+11G>A Single submitter Rotor syndrome
- c.628+4A>T Single submitter Rotor syndrome
- c.727+10A>G Single submitter Rotor syndrome
- c.728-4C>G Single submitter
- c.84+4G>T Single submitter Rotor syndrome
- c.-145G>C Single submitter Rotor syndrome
- c.-147A>T Single submitter Rotor syndrome
- c.-181+15G>C Single submitter Rotor syndrome
- c.*219G>A Single submitter Rotor syndrome
- c.*307T>C Single submitter Rotor syndrome
- c.*339G>C Single submitter Rotor syndrome
- c.*362A>C Single submitter Rotor syndrome
- c.*399A>G Single submitter Rotor syndrome
- c.*437A>G Single submitter Rotor syndrome
- c.*509T>C Single submitter Rotor syndrome
- c.*540G>A Single submitter Rotor syndrome
- c.*560T>C Single submitter Rotor syndrome
- c.*562G>T Single submitter Rotor syndrome
- c.*610A>G Single submitter Rotor syndrome
- c.*622G>A Single submitter Rotor syndrome
- c.*641C>T Single submitter Rotor syndrome
- c.*8T>C Single submitter Rotor syndrome
- p.Ala200Pro Single submitter ⚠
- p.Ala33= Single submitter Rotor syndrome
- p.Ala33Thr Single submitter ⚠
- p.Ala436= Single submitter Rotor syndrome
- p.Ala539Pro Single submitter ⚠
- p.Ala609Thr Single submitter SLCO1B3-related disorder ⚠
- p.Arg181Cys Single submitter Rotor syndrome ⚠
- p.Arg253Cys Single submitter Rotor syndrome ⚠
- p.Arg253His Single submitter Rotor syndrome ⚠
- p.Arg57fs Single submitter Rotor syndrome
- p.Arg663Gly Single submitter ⚠
- p.Asn151Ser Single submitter Rotor syndrome ⚠
- p.Asn284Ser Single submitter ⚠
- p.Asn335Ser Single submitter Rotor syndrome ⚠
- p.Asn445Ser Single submitter ⚠
- p.Asn528Ser Single submitter ⚠
- p.Asn661Ser Single submitter ⚠
- p.Asn675Ser Single submitter ⚠
- p.Asp161Asn Single submitter Rotor syndrome ⚠
- p.Asp241His Single submitter ⚠
- p.Asp241Val Single submitter
- p.Asp2Asn Single submitter ⚠
- p.Asp304Val Single submitter ⚠
- p.Asp60Asn Single submitter ⚠
- p.Asp697Gly Single submitter ⚠
- p.Cys162Tyr Single submitter SLCO1B3-related disorder ⚠
- p.Cys430Tyr Single submitter ⚠
- p.Cys474Ser Single submitter ⚠
- p.Cys489Arg Single submitter ⚠
- p.Cys599Arg Single submitter ⚠
- p.Cys599fs Single submitter
- p.Glu156Ala Single submitter ⚠
- p.Glu431Lys Single submitter Rotor syndrome ⚠
- p.Gly100Ser Single submitter ⚠
- p.Gly184Arg Single submitter ⚠
- p.Gly216Arg Single submitter ⚠
- p.Gly216Val Single submitter ⚠
- p.Gly238Ala Single submitter ⚠
- p.Gly238Arg Single submitter Rotor syndrome
- p.Gly324Val Single submitter ⚠
- p.Gly368Ser Single submitter ⚠
- p.Gly394Arg Single submitter ⚠
- p.Gly44Ser Single submitter ⚠
- p.Gly478Arg Single submitter Rotor syndrome ⚠
- p.Gly478Glu Single submitter Rotor syndrome ⚠
- p.Gly494Arg Single submitter ⚠
- p.Gly584Arg Single submitter ⚠
- p.Gly76Val Single submitter Rotor syndrome ⚠
- p.Gly88Val Single submitter Rotor syndrome ⚠
- p.Gly98Arg Single submitter ⚠
- p.His520Pro Single submitter Rotor syndrome ⚠
- p.His92Arg Single submitter Rotor syndrome
- p.Ile157Met Single submitter Rotor syndrome ⚠
- p.Ile196Thr Single submitter Rotor syndrome
- p.Ile247Lys Single submitter ⚠
- p.Ile381Val Single submitter ⚠
- p.Ile417Met Single submitter ⚠
- p.Ile47Phe Single submitter ⚠
- p.Ile50Val Single submitter Rotor syndrome ⚠
- p.Ile562Thr Single submitter Rotor syndrome ⚠
- p.Ile61Met Single submitter ⚠
- p.Ile641Thr Single submitter ⚠
- p.Leu226Met Single submitter ⚠
- p.Leu260Ile Single submitter ⚠
- p.Leu333Ile Single submitter ⚠
- p.Leu333Phe Single submitter ⚠
- p.Leu346Phe Single submitter ⚠
- p.Leu377= Single submitter Rotor syndrome
- p.Leu438Pro Single submitter Rotor syndrome ⚠
- p.Leu628Phe Single submitter Rotor syndrome ⚠
- p.Leu674Ile Single submitter Rotor syndrome ⚠
- p.Lys398Ile Single submitter ⚠
- p.Lys409Arg Single submitter SLCO1B3-related disorder ⚠
- p.Lys409Glu Single submitter ⚠
- p.Lys49Asn Single submitter Rotor syndrome ⚠
- p.Lys533Arg Single submitter Rotor syndrome ⚠
- p.Lys648Arg Single submitter ⚠
- p.Lys664Asn Single submitter Rotor syndrome ⚠
- p.Lys9Thr Single submitter Rotor syndrome ⚠
- p.Met179Ile Single submitter ⚠
- p.Met233Leu Single submitter ⚠
- p.Met48Thr Single submitter SLCO1B3-related disorder
- p.Met577Lys Single submitter ⚠
- p.Met647Val Single submitter ⚠
- p.Met666Ile Single submitter ⚠
- p.Met666Thr Single submitter ⚠
- p.Phe268Cys Single submitter Rotor syndrome ⚠
- p.Phe27Cys Single submitter
- p.Phe325Ile Single submitter Rotor syndrome ⚠
- p.Phe352Leu Single submitter ⚠
- p.Phe400Leu Single submitter Rotor syndrome ⚠
- p.Phe421Ser Single submitter ⚠
- p.Pro187Arg Single submitter Rotor syndrome ⚠
- p.Pro249Ser Single submitter ⚠
- p.Pro455Ala Single submitter Rotor syndrome ⚠
- p.Pro682His Single submitter ⚠
- p.Ser149del Single submitter Rotor syndrome
- p.Ser149Pro Single submitter ⚠
- p.Ser166Phe Single submitter ⚠
- p.Ser228Tyr Single submitter Rotor syndrome
- p.Ser331Gly Single submitter ⚠
- p.Ser63Pro Single submitter ⚠
- p.Ser89Tyr Single submitter ⚠
- p.Thr106Ala Single submitter ⚠
- p.Thr127Ser Single submitter ⚠
- p.Thr186Ala Single submitter ⚠
- p.Thr186Asn Single submitter Rotor syndrome ⚠
- p.Thr244Ser Single submitter Rotor syndrome ⚠
- p.Thr319Ser Single submitter Rotor syndrome ⚠
- p.Thr414Asn Single submitter Rotor syndrome ⚠
- p.Thr553= Single submitter Rotor syndrome
- p.Thr581Ala Single submitter Rotor syndrome ⚠
- p.Tyr120His Single submitter ⚠
- p.Tyr173Cys Single submitter Rotor syndrome ⚠
- p.Tyr425Cys Single submitter Rotor syndrome ⚠
- p.Tyr502Cys Single submitter ⚠
- p.Tyr625Cys Single submitter ⚠
- p.Val235Met Single submitter ⚠
- p.Val255Leu Single submitter SLCO1B3-related disorder ⚠
- p.Val255Phe Single submitter ⚠
- p.Val349Leu Single submitter ⚠
- p.Val578Leu Single submitter Rotor syndrome ⚠
- p.Val619Ile Single submitter Rotor syndrome ⚠
- p.Val681Ile Single submitter ⚠
- p.Val80Leu Single submitter ⚠
- c.482-6C>A No assertion criteria SLCO1B3-related disorder
- p.Asp443Gly No assertion criteria SLCO1B3-related disorder ⚠
- p.Gln610fs No assertion criteria SLCO1B3-related disorder
- p.Ile556fs No assertion criteria SLCO1B3-related disorder
- p.Met170Thr No assertion criteria SLCO1B3-related disorder ⚠
- p.Phe574Leu No assertion criteria SLCO1B3-related disorder ⚠
- p.Pro384Thr No assertion criteria SLCO1B3-related disorder
- p.Ser415Leu No assertion criteria SLCO1B3-related disorder ⚠
- p.Thr385Met No assertion criteria SLCO1B3-related disorder ⚠
- p.Thr550Ala No assertion criteria SLCO1B3-related disorder ⚠