CFHR3 — 119 ClinVar variants
All ClinVar germline CFHR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
1 Pathogenic · 2 Conflicting · 14 Benign · 7 Benign/Likely benign · 26 Likely benign · 69 Uncertain significance
Full CFHR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFHR3 p.Arg320Gln Uncertain significance Multiple submitters
- CFHR3 p.Gly119Ala Uncertain significance Multiple submitters
- CFHR3 p.Arg39Leu Uncertain significance Single submitter
- CFHR3 p.Asn274Lys Uncertain significance Single submitter
- CFHR3 p.Asn6Ser Uncertain significance Single submitter
- CFHR3 p.Cys175Gly Uncertain significance Single submitter
- CFHR3 p.Gln124Arg Uncertain significance Single submitter
- CFHR3 p.Gln194Lys Uncertain significance Single submitter
- CFHR3 p.Gln19Glu Uncertain significance Single submitter
- CFHR3 p.Gln200His Uncertain significance Single submitter
- CFHR3 p.Glu154Gln Uncertain significance Single submitter
-
CFHR3 p.Gly119Arg
Uncertain significance
Single submitter
kidney disorder
- CFHR3 p.Gly119Val Uncertain significance Single submitter
- CFHR3 p.Ile312Met Uncertain significance Single submitter
- CFHR3 p.Ile5Thr Uncertain significance Single submitter
- CFHR3 p.Phe300Cys Uncertain significance Single submitter
- CFHR3 p.Pro177Gln Uncertain significance Single submitter
- CFHR3 p.Ser217Arg Uncertain significance Single submitter
- CFHR3 p.Ser217Gly Uncertain significance Single submitter
- CFHR3 p.Thr10Ala Uncertain significance Single submitter
- CFHR3 p.Thr10Ser Uncertain significance Single submitter
- CFHR3 p.Thr137Ala Uncertain significance Single submitter
- CFHR3 p.Thr297Ile Uncertain significance Single submitter
- CFHR3 p.Tyr165Phe Uncertain significance Single submitter
- CFHR3 p.Tyr243Asp Uncertain significance Single submitter
- CFHR3 p.Tyr53His Uncertain significance Single submitter
- CFHR3 p.Val324Met Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
-
CFHR3 p.Arg142Cys
Benign
Multiple submitters
age related macular degeneration 1
-
CFHR3 p.Gln240His
Benign
Multiple submitters
age related macular degeneration 1
-
CFHR3 p.Phe34Cys
Benign/Likely benign
Multiple submitters
kidney disorder
- CFHR3 p.Tyr100Cys Benign/Likely benign Multiple submitters
- CFHR3 p.Ala292Val Uncertain significance Single submitter
- CFHR3 p.Arg142His Uncertain significance Single submitter
- CFHR3 p.Arg288Ile Uncertain significance Single submitter
- CFHR3 p.Arg320Trp Uncertain significance Single submitter
- CFHR3 p.Arg39Cys Uncertain significance Single submitter
- CFHR3 p.Asn195Ile Uncertain significance Single submitter
- CFHR3 p.Asn218Tyr Uncertain significance Single submitter
- CFHR3 p.Asn278Asp Uncertain significance Single submitter
- CFHR3 p.Asn278Thr Uncertain significance Single submitter
- CFHR3 p.Asn309His Uncertain significance Single submitter
- CFHR3 p.Asn37Thr Uncertain significance Single submitter
- CFHR3 p.Asp68Asn Uncertain significance Single submitter
- CFHR3 p.Glu330Lys Uncertain significance Single submitter
- CFHR3 p.Gly305Glu Uncertain significance Single submitter
- CFHR3 p.Ile151Val Uncertain significance Single submitter
- CFHR3 p.Ile70Thr Uncertain significance Single submitter
- CFHR3 p.Leu282Phe Uncertain significance Single submitter
- CFHR3 p.Leu282Val Uncertain significance Single submitter
- CFHR3 p.Met275Ile Uncertain significance Single submitter
- CFHR3 p.Met301Leu Uncertain significance Single submitter
- CFHR3 p.Phe34Leu Uncertain significance Single submitter
- CFHR3 p.Pro138Leu Uncertain significance Single submitter
- CFHR3 p.Pro201Ala Uncertain significance Single submitter
- CFHR3 p.Pro79Ser Uncertain significance Single submitter
- CFHR3 p.Ser149Leu Uncertain significance Single submitter
- CFHR3 p.Ser162Phe Uncertain significance Single submitter
- CFHR3 p.Ser217Cys Uncertain significance Single submitter
- CFHR3 p.Ser259Leu Uncertain significance Single submitter
- CFHR3 p.Thr181Arg Uncertain significance Single submitter
- CFHR3 p.Tyr54Cys Uncertain significance Single submitter
All CFHR3 variants
Pathogenic 1
- c.613+3_613+6del Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
Conflicting classifications of pathogenicity 2
- c.613+2T>C Single submitter
- p.Arg39His Single submitter ⚠
Benign 14
- c.431-88C>T Multiple submitters
- c.796+22T>A Multiple submitters
- c.797-145C>A Multiple submitters
- c.-53C>A Multiple submitters
- c.*265G>C Multiple submitters
- p.Arg142Cys Multiple submitters age related macular degeneration 1 ⚠
- p.Gln240His Multiple submitters age related macular degeneration 1 ⚠
- p.Leu4= Multiple submitters
- p.Pro262= Multiple submitters
- p.Ser159= Multiple submitters
- c.253+190A>G Single submitter
- c.431-253A>C Single submitter
- c.431-263C>T Single submitter
- c.797-190T>C Single submitter
Benign/Likely benign 7
- p.Arg320= Multiple submitters
- p.Gly18Ala Multiple submitters atypical hemolytic-uremic syndrome
- p.Ile312Phe Multiple submitters age related macular degeneration 1
- p.Phe34Cys Multiple submitters kidney disorder ⚠
- p.Pro241Ser Multiple submitters
- p.Tyr100Cys Multiple submitters ⚠
- p.Tyr118= Multiple submitters
Likely benign 26
- c.58+8A>G Multiple submitters
- p.Ala308= Multiple submitters
- p.Cys268Phe Multiple submitters age related macular degeneration 1
- p.Gly322= Multiple submitters
- p.Ile269Val Multiple submitters hemolytic uremic syndrome, atypical, susceptibility to, 1
- c.613+405T>C Single submitter
- c.613+7G>A Single submitter
- c.613+9T>A Single submitter
- c.796+512AATA[12] Single submitter
- c.796+772A>T Single submitter
- c.797-64G>T Single submitter
- c.*1G>C Single submitter
- p.Arg102= Single submitter
- p.Cys329= Single submitter
- p.Gly188= Single submitter
- p.Gly76= Single submitter
- p.His266Tyr Single submitter
- p.Ile312Val Single submitter
- p.Leu9= Single submitter
- p.Lys281Gln Single submitter
- p.Ser186Thr Single submitter
- p.Thr252= Single submitter
- p.Val235= Single submitter
- p.Val251= Single submitter
- c.58+5G>A No assertion criteria CFHR3-related disorder
- p.Tyr100= No assertion criteria CFHR3-related disorder
Uncertain significance 69
- c.796+1G>A Multiple submitters
- p.Arg320Gln Multiple submitters ⚠
- p.Gly119Ala Multiple submitters ⚠
- p.Ile280fs Multiple submitters age related macular degeneration 1
- p.Tyr118Ter Multiple submitters
- c.253+4A>G Single submitter
- c.613+1G>A Single submitter
- c.614-4del Single submitter
- p.Ala292Val Single submitter ⚠
- p.Arg142His Single submitter ⚠
- p.Arg288Ile Single submitter ⚠
- p.Arg320Trp Single submitter ⚠
- p.Arg39Cys Single submitter ⚠
- p.Arg39Leu Single submitter ⚠
- p.Asn195Ile Single submitter ⚠
- p.Asn218Tyr Single submitter ⚠
- p.Asn274Lys Single submitter ⚠
- p.Asn278Asp Single submitter ⚠
- p.Asn278Thr Single submitter ⚠
- p.Asn309His Single submitter ⚠
- p.Asn37Thr Single submitter ⚠
- p.Asn6Ser Single submitter ⚠
- p.Asp68Asn Single submitter ⚠
- p.Cys175Gly Single submitter ⚠
- p.Gln124Arg Single submitter ⚠
- p.Gln172Ter Single submitter
- p.Gln194Lys Single submitter ⚠
- p.Gln19Glu Single submitter ⚠
- p.Gln200His Single submitter ⚠
- p.Glu154Gln Single submitter ⚠
- p.Glu330Lys Single submitter ⚠
- p.Glu36Ter Single submitter
- p.Gly119Arg Single submitter kidney disorder ⚠
- p.Gly119Val Single submitter ⚠
- p.Gly178= Single submitter age related macular degeneration 1
- p.Gly305Glu Single submitter ⚠
- p.Ile151Val Single submitter ⚠
- p.Ile312Met Single submitter ⚠
- p.Ile5Thr Single submitter ⚠
- p.Ile70Thr Single submitter ⚠
- p.Leu282Phe Single submitter ⚠
- p.Leu282Val Single submitter ⚠
- p.Lys281fs Single submitter
- p.Met275Ile Single submitter ⚠
- p.Met301Leu Single submitter ⚠
- p.Phe300Cys Single submitter ⚠
- p.Phe34fs Single submitter age related macular degeneration 1
- p.Phe34Leu Single submitter ⚠
- p.Pro138Leu Single submitter ⚠
- p.Pro177Gln Single submitter ⚠
- p.Pro201Ala Single submitter ⚠
- p.Pro79Ser Single submitter ⚠
- p.Ser149Leu Single submitter ⚠
- p.Ser162Phe Single submitter ⚠
- p.Ser217Arg Single submitter ⚠
- p.Ser217Cys Single submitter ⚠
- p.Ser217Gly Single submitter ⚠
- p.Ser259Leu Single submitter ⚠
- p.Thr10Ala Single submitter ⚠
- p.Thr10Ser Single submitter ⚠
- p.Thr137Ala Single submitter ⚠
- p.Thr181Arg Single submitter ⚠
- p.Thr297Ile Single submitter ⚠
- p.Tyr165Phe Single submitter ⚠
- p.Tyr243Asp Single submitter ⚠
- p.Tyr53His Single submitter ⚠
- p.Tyr54Cys Single submitter ⚠
- p.Val318fs Single submitter hemolytic uremic syndrome, atypical, susceptibility to, 1
- p.Val324Met Single submitter ⚠