ClinVar Miner

List of variants in gene ERCC1 studied for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_001983.4(ERCC1):c.-7-136A>G rs3212935
NM_001983.4(ERCC1):c.-7-71dup rs56298105
NM_001983.4(ERCC1):c.122_123dup (p.Ser42fs) rs1231361408
NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter) rs150584960
NM_001983.4(ERCC1):c.225G>A (p.Thr75=) rs3212947
NM_001983.4(ERCC1):c.326G>A (p.Gly109Asp) rs886054501
NM_001983.4(ERCC1):c.354T>C (p.Asn118=) rs11615
NM_001983.4(ERCC1):c.390T>C (p.Tyr130=) rs56148539
NM_001983.4(ERCC1):c.422del (p.Leu141fs) rs1568585641
NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter) rs121913027
NM_001983.4(ERCC1):c.525+9G>A rs376918930
NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter) rs886039224
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr)
NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro)
NM_001983.4(ERCC1):c.843+105C>G rs749775040
NM_001983.4(ERCC1):c.843+32G>A rs116640350

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