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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser)	rs2227869	0.04381
NM_000123.4(ERCC5):c.1440C>T (p.His480=)	rs4150316	0.03197
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg)	rs4150313	0.02531
NM_000123.4(ERCC5):c.429C>G (p.Leu143=)	rs4140390	0.02517
NM_000123.4(ERCC5):c.760A>G (p.Met254Val)	rs1047769	0.02515
NM_000123.4(ERCC5):c.960C>T (p.Asp320=)	rs4150314	0.00932
NM_000123.4(ERCC5):c.945C>T (p.His315=)	rs34061299	0.00370
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=)	rs9518857	0.00270
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=)	rs148856875	0.00196
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)	rs4150319	0.00158
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)	rs146344855	0.00113
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)	rs150791877	0.00094
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter)	rs1244074570

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