ClinVar Miner

List of variants in gene ERCC8 reported as uncertain significance for Cockayne syndrome

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_000082.3(ERCC8):c.*373_*375dupTCA rs886060720
NM_000082.3(ERCC8):c.*462T>A rs886060719
NM_000082.3(ERCC8):c.*724C>G rs886060718
NM_000082.3(ERCC8):c.*725T>G rs549186090
NM_000082.3(ERCC8):c.*763A>C rs886060717
NM_000082.3(ERCC8):c.-25G>C rs745927528
NM_000082.3(ERCC8):c.1006del (p.Thr336fs) rs1554072703
NM_000082.3(ERCC8):c.1012G>A (p.Asp338Asn) rs141845482
NM_000082.3(ERCC8):c.1070A>G (p.Asn357Ser) rs199590588
NM_000082.3(ERCC8):c.1095dup (p.Tyr366fs) rs750622098
NM_000082.3(ERCC8):c.1105G>C (p.Val369Leu) rs543291626
NM_000082.3(ERCC8):c.1125del (p.Thr376fs) rs1554071508
NM_000082.3(ERCC8):c.1137del (p.Gln380fs) rs1343747301
NM_000082.3(ERCC8):c.1181_1183AAG[1] (p.Glu395del) rs754890794
NM_000082.3(ERCC8):c.1186_*1del (p.Gly396fs) rs1554071495
NM_000082.3(ERCC8):c.149A>G (p.Asp50Gly) rs373174008
NM_000082.3(ERCC8):c.173+9A>G rs143356896
NM_000082.3(ERCC8):c.311C>G (p.Thr104Ser) rs886060722
NM_000082.3(ERCC8):c.363T>C (p.Asp121=) rs4647088
NM_000082.3(ERCC8):c.409G>A (p.Val137Ile) rs150952570
NM_000082.3(ERCC8):c.430G>A (p.Val144Ile) rs192695896
NM_000082.3(ERCC8):c.439_441CAT[1] (p.His148del) rs1249878855
NM_000082.3(ERCC8):c.472T>C (p.Leu158=) rs561001438
NM_000082.3(ERCC8):c.478G>A (p.Ala160Thr) rs281875222
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.551-10G>T rs758296965
NM_000082.3(ERCC8):c.562_564del (p.Glu188del) rs1404307838
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.66G>A (p.Glu22=) rs149130938
NM_000082.3(ERCC8):c.812T>C (p.Leu271Pro) rs886060721
NM_000082.3(ERCC8):c.839C>A (p.Thr280Lys) rs61754098

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