List of variants in gene ERCC4 reported as likely 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_005236.3(ERCC4):c.1102+1G>T	rs1314323456	0.00001
NC_000016.9:g.(14031716_14038579)_(14038693_14041470)del
NM_005236.3(ERCC4):c.1214-1G>A
NM_005236.3(ERCC4):c.2017+1G>C	rs587777943
NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter)

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