List of variants in gene combination BIVM-ERCC5, ERCC5 reported as uncertain significance for Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)	rs146344855	0.00113
NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr)	rs201911663	0.00022
NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu)	rs201684551	0.00005
NM_000123.4(ERCC5):c.1039G>T (p.Ala347Ser)	rs759962943	0.00002
NM_000123.4(ERCC5):c.293C>T (p.Ala98Val)	rs375404851	0.00002

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