ClinVar Miner

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

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_005236.2(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005236.2(ERCC4):c.1730dup (p.Tyr577Ter) rs397509404
NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.2(ERCC4):c.2304_2307del rs869025184
NM_005236.2(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005236.2(ERCC4):c.689T>C (p.Leu230Pro) rs397509402
NM_005236.2(ERCC4):c.706T>C (p.Cys236Arg) rs397509403
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049

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