List of variants in gene ERCC2 reported as pathogenic for Xeroderma pigmentosum

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	rs144564120	0.00029
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	rs376556895	0.00010
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)	rs121913024	0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)	rs121913018	0.00004
NM_000400.4(ERCC2):c.2005del (p.Arg669fs)	rs1233791234	0.00002
NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
NM_000400.4(ERCC2):c.594+2_594+5del	rs762309206
NM_000400.4(ERCC2):c.[1381C>G;2150C>G]

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