List of variants in gene combination BIVM-ERCC5, ERCC5 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter)	rs121434570	0.00003
NM_000123.4(ERCC5):c.1173dup (p.Lys392Ter)	rs1283214655
NM_000123.4(ERCC5):c.1975del (p.Ser659fs)	rs1882806435
NM_000123.4(ERCC5):c.2606_2607del (p.Val869fs)	rs779078202
NM_000123.4(ERCC5):c.2751del (p.Lys917fs)	rs752661599
NM_000123.4(ERCC5):c.922_923del (p.Leu308fs)	rs1882641004

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