ClinVar Miner

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.641G>A (p.Arg214His)	rs146833751	0.00341
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu)	rs4150388	0.00250

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