ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group G by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Total variants: 13
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NM_000123.4(ERCC5):c.1110T>A (p.Arg370=) rs150791877
NM_000123.4(ERCC5):c.1440C>T (p.His480=) rs4150316
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=) rs9518857
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=) rs148856875
NM_000123.4(ERCC5):c.429C>G (p.Leu143=) rs4140390
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg) rs4150313
NM_000123.4(ERCC5):c.945C>T (p.His315=) rs34061299
NM_000123.4(ERCC5):c.960C>T (p.Asp320=) rs4150314

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