ClinVar Miner

List of variants reported as pathogenic for Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q

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Total variants: 7
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NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049

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