List of variants in gene BIVM-ERCC5, ERCC5 studied for Xeroderma pigmentosum

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001204425.2(BIVM-ERCC5):c.1450+6027C>A	rs4150248	0.03070
NM_001204425.2(BIVM-ERCC5):c.1450+6024A>C	rs74109690	0.01436
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.2890del (p.Arg964fs)
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter)	rs9514067
NM_000123.4(ERCC5):c.922_923del (p.Leu308fs)	rs1882641004

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