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

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.673-2A>G	rs756420203	0.00001
NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)
NM_000123.4(ERCC5):c.265-2A>G
NM_000123.4(ERCC5):c.2941_2944del (p.Leu981fs)
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter)	rs9514067
NM_000123.4(ERCC5):c.323del (p.Lys108fs)
NM_000123.4(ERCC5):c.381-2A>G

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