ClinVar Miner

List of variants in gene ERCC4 reported as likely benign for DNA repair disease

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_005236.2(ERCC4):c.*11C>T rs9929524
NM_005236.2(ERCC4):c.*1421G>T rs76447723
NM_005236.2(ERCC4):c.*1880C>T rs112776898
NM_005236.2(ERCC4):c.*2174A>G rs9925509
NM_005236.2(ERCC4):c.*3125A>G rs115183774
NM_005236.2(ERCC4):c.*3327A>G rs535056033
NM_005236.2(ERCC4):c.*3493T>C rs79560972
NM_005236.2(ERCC4):c.*3537C>T rs113073720
NM_005236.2(ERCC4):c.*3801C>T rs113403633
NM_005236.2(ERCC4):c.*3913G>C rs112259692
NM_005236.2(ERCC4):c.*674G>C rs1651204
NM_005236.2(ERCC4):c.*675G>T rs1651203
NM_005236.2(ERCC4):c.1123C>T (p.Leu375=) rs376695854
NM_005236.2(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802
NM_005236.2(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067
NM_005236.2(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259
NM_005236.2(ERCC4):c.1488A>T (p.Gln496His) rs146601373
NM_005236.2(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.2(ERCC4):c.1884A>G (p.Glu628=) rs2020958
NM_005236.2(ERCC4):c.1899C>G (p.Leu633=) rs954215121
NM_005236.2(ERCC4):c.1899C>T (p.Leu633=) rs954215121
NM_005236.2(ERCC4):c.1983A>G (p.Ala661=) rs373237850
NM_005236.2(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955
NM_005236.2(ERCC4):c.2046A>G (p.Gln682=) rs565249189
NM_005236.2(ERCC4):c.228G>A (p.Leu76=) rs61760162
NM_005236.2(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.2(ERCC4):c.2427G>A (p.Thr809=) rs2020960
NM_005236.2(ERCC4):c.252C>T (p.Leu84=) rs3136056
NM_005236.2(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605
NM_005236.2(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933
NM_005236.2(ERCC4):c.2655G>A (p.Thr885=) rs16963255
NM_005236.2(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735
NM_005236.2(ERCC4):c.325G>A (p.Ala109Thr) rs148791570
NM_005236.2(ERCC4):c.372T>C (p.Pro124=) rs780096152
NM_005236.2(ERCC4):c.718C>T (p.Leu240=) rs746904084

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