List of variants in gene combination BIVM-ERCC5, ERCC5 reported as likely pathogenic for Xeroderma pigmentosum

Minimum submission review status:		Collection method:
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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.1173dup (p.Lys392Ter)	rs1283214655
NM_000123.4(ERCC5):c.2890del (p.Arg964fs)
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter)	rs9514067

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