ClinVar Miner

List of variants reported as pathogenic for Xeroderma pigmentosum, group G

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Total variants: 12
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NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.4(ERCC5):c.1494del (p.Asp499fs) rs786200920
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val) rs121434571
NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro) rs121434575
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576
NM_000123.4(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570
NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp) rs267607281
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs) rs1595382501

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