CHFR — 95 ClinVar variants

All ClinVar germline CHFR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →

1 Likely pathogenic · 2 Benign · 4 Likely benign · 88 Uncertain significance

Full CHFR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 88

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 lean, ClinVar uncertain 56

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 32

The independent predictors disagree with each other — read with care.

All CHFR variants

Likely pathogenic 1

p.Gln411Ter Single submitter

Benign 2

p.Leu472= Multiple submitters
p.Ala499= Single submitter

Likely benign 4

p.Ala448Val Single submitter
p.Arg266Cys Single submitter
p.Gly195= Single submitter
p.Ser232Leu Single submitter

Uncertain significance 88

p.Ala279Val Single submitter ⚠
p.Ala280Ser Single submitter ⚠
p.Ala499Val Single submitter ⚠
p.Ala569Val Single submitter ⚠
p.Arg21His Single submitter ⚠
p.Arg266Gly Single submitter ⚠
p.Arg266His Single submitter ⚠
p.Arg277Lys Single submitter ⚠
p.Arg323Cys Single submitter ⚠
p.Arg331Cys Single submitter ⚠
p.Arg359His Single submitter ⚠
p.Arg384Trp Single submitter ⚠
p.Arg417Gln Single submitter ⚠
p.Arg42Gly Single submitter ⚠
p.Arg42Trp Single submitter ⚠
p.Arg483Trp Single submitter ⚠
p.Arg487Cys Single submitter ⚠
p.Arg555Ile Single submitter ⚠
p.Arg572Trp Single submitter ⚠
p.Arg605Trp Single submitter ⚠
p.Arg630His Single submitter ⚠
p.Asn344Ser Single submitter ⚠
p.Asn53Asp Single submitter ⚠
p.Asn550Ser Single submitter ⚠
p.Asn642Ser Single submitter ⚠
p.Asp251Glu Single submitter ⚠
p.Asp297Glu Single submitter ⚠
p.Cys338Ser Single submitter ⚠
p.Cys46Phe Single submitter ⚠
p.Cys592Tyr Single submitter ⚠
p.Gln14His Single submitter ⚠
p.Gln296Arg Single submitter ⚠
p.Gln93Arg Single submitter ⚠
p.Glu274Lys Single submitter ⚠
p.Glu436Lys Single submitter ⚠
p.Glu488Lys Single submitter ⚠
p.Glu565Lys Single submitter ⚠
p.Gly197Trp Single submitter ⚠
p.Gly250Arg Single submitter ⚠
p.Gly536Ser Single submitter ⚠
p.Gly70Asp Single submitter ⚠
p.His30Gln Single submitter ⚠
p.His30Tyr Single submitter ⚠
p.His60Asp Single submitter ⚠
p.Ile293Val Single submitter ⚠
p.Ile373Ser Single submitter ⚠
p.Ile373Thr Single submitter ⚠
p.Ile40Val Single submitter ⚠
p.Leu299Arg Single submitter ⚠
p.Leu346Val Single submitter ⚠
p.Leu351Pro Single submitter ⚠
p.Leu529Met Single submitter ⚠
p.Leu552Pro Single submitter ⚠
p.Lys245Glu Single submitter ⚠
p.Lys247Asn Single submitter ⚠
p.Lys8Arg Single submitter ⚠
p.Lys92Gln Single submitter ⚠
p.Phe641Leu Single submitter ⚠
p.Pro112Arg Single submitter ⚠
p.Pro112Leu Single submitter ⚠
p.Pro11Ser Single submitter ⚠
p.Pro13Ser Single submitter ⚠
p.Pro223Arg Single submitter ⚠
p.Pro265Leu Single submitter ⚠
p.Pro430Arg Single submitter ⚠
p.Pro491Leu Single submitter ⚠
p.Pro504Ser Single submitter ⚠
p.Pro523Leu Single submitter ⚠
p.Ser10Leu Single submitter ⚠
p.Ser217Arg Single submitter ⚠
p.Ser231Leu Single submitter ⚠
p.Ser318Leu Single submitter ⚠
p.Ser393Leu Single submitter ⚠
p.Ser57Pro Single submitter ⚠
p.Thr289Met Single submitter ⚠
p.Thr515Asn Single submitter ⚠
p.Thr583Met Single submitter ⚠
p.Thr601Ile Single submitter ⚠
p.Trp38Cys Single submitter ⚠
p.Tyr604Cys Single submitter ⚠
p.Val244Met Single submitter ⚠
p.Val272Ile Single submitter ⚠
p.Val31Ile Single submitter ⚠
p.Val334Met Single submitter ⚠
p.Val453Ile Single submitter ⚠
p.Val568Leu Single submitter ⚠
p.Val587Ile Single submitter ⚠
p.Val64Ala Single submitter ⚠