ClinVar Miner

List of variants in gene ERCC3 reported as pathogenic for DNA repair disease

Included ClinVar conditions (97):
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
ERCC3, IVS14AS, C-A, -6
NM_000122.1(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.1(ERCC3):c.1421dup (p.Asp474fs) rs587778281
NM_000122.1(ERCC3):c.1633C>T (p.Gln545Ter) rs121913048
NM_000122.1(ERCC3):c.296T>C (p.Phe99Ser) rs121913045
NM_000122.1(ERCC3):c.355A>C (p.Thr119Pro) rs121913046
NM_000122.1(ERCC3):c.471+1G>A rs1558964705
NM_000122.1(ERCC3):c.583C>T (p.Arg195Ter) rs138385061
NM_000122.1(ERCC3):c.809_810del (p.Ser269_Phe270insTer) rs866379139

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