ClinVar Miner

List of variants in gene combination BIVM-ERCC5, ERCC5, LOC126861834 reported as benign for xeroderma pigmentosum group G

Included ClinVar conditions (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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.2457G>A (p.Arg819=)	rs73573973	0.00694
NM_000123.4(ERCC5):c.2100C>A (p.Leu700=)	rs2228959	0.00243

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