ClinVar Miner

List of variants in gene ERCC8 studied for Cockayne syndrome

Included ClinVar conditions (17):
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Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP
ERCC8, 279-BP DEL, 81-BP DEL
NM_000082.3(ERCC8):c.*105T>C rs3117
NM_000082.3(ERCC8):c.*237T>C rs4647153
NM_000082.3(ERCC8):c.*36C>T rs4647152
NM_000082.3(ERCC8):c.*373_*375dup rs886060720
NM_000082.3(ERCC8):c.*439G>T rs4647155
NM_000082.3(ERCC8):c.*462T>A rs886060719
NM_000082.3(ERCC8):c.*519C>A rs4647157
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.-133C>G rs4647037
NM_000082.3(ERCC8):c.-23T>G rs4647038
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.1042-1G>A rs897535441
NM_000082.3(ERCC8):c.1042-1G>C rs897535441
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000082.3(ERCC8):c.1070A>G (p.Asn357Ser) rs199590588
NM_000082.3(ERCC8):c.1080T>C (p.Ala360=) rs4647130
NM_000082.3(ERCC8):c.1095dup (p.Tyr366fs) rs750622098
NM_000082.3(ERCC8):c.1105G>C (p.Val369Leu) rs543291626
NM_000082.3(ERCC8):c.1122+1G>A rs1482664387
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.141del (p.Asn47fs) rs786205176
NM_000082.3(ERCC8):c.149A>G (p.Asp50Gly) rs373174008
NM_000082.3(ERCC8):c.173+1119G>C rs1043679457
NM_000082.3(ERCC8):c.173+1158A>G rs4647068
NM_000082.3(ERCC8):c.173+1G>A rs1476095782
NM_000082.3(ERCC8):c.173+9A>G rs143356896
NM_000082.3(ERCC8):c.276-2A>G rs1554074597
NM_000082.3(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518
NM_000082.3(ERCC8):c.311C>G (p.Thr104Ser) rs886060722
NM_000082.3(ERCC8):c.313_314del (p.Val105fs) rs1404477615
NM_000082.3(ERCC8):c.317_320dup (p.Trp107Ter)
NM_000082.3(ERCC8):c.363T>C (p.Asp121=) rs4647088
NM_000082.3(ERCC8):c.37G>T (p.Glu13Ter) rs121434324
NM_000082.3(ERCC8):c.394_398del (p.Leu132fs) rs774542633
NM_000082.3(ERCC8):c.399+1G>A rs774047625
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.435T>C (p.Tyr145=) rs4647100
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.482-2A>G rs1554073420
NM_000082.3(ERCC8):c.551-10G>T rs758296965
NM_000082.3(ERCC8):c.551-1G>A rs1554073316
NM_000082.3(ERCC8):c.562_564del (p.Glu188del) rs1404307838
NM_000082.3(ERCC8):c.600dup (p.Ile201fs) rs1468231556
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.618-1G>A rs201464610
NM_000082.3(ERCC8):c.647_651dup (p.Arg218Ter) rs1554073177
NM_000082.3(ERCC8):c.66G>A (p.Glu22=) rs149130938
NM_000082.3(ERCC8):c.679del (p.Asp227fs) rs1554073175
NM_000082.3(ERCC8):c.719-2A>G rs1554073117
NM_000082.3(ERCC8):c.719-2A>T rs1554073117
NM_000082.3(ERCC8):c.769G>A (p.Gly257Arg)
NM_000082.3(ERCC8):c.77+2T>G rs1554076239
NM_000082.3(ERCC8):c.78-2A>T rs748379243
NM_000082.3(ERCC8):c.812T>C (p.Leu271Pro) rs886060721
NM_000082.3(ERCC8):c.839C>A (p.Thr280Lys) rs61754098
NM_000082.3(ERCC8):c.843+1G>T rs1305258765
NM_000082.3(ERCC8):c.928del (p.Val310fs) rs1554072713
NM_000082.3(ERCC8):c.966C>A (p.Tyr322Ter) rs121434323

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