ClinVar Miner

List of variants in gene ERCC4 reported by Undiagnosed Diseases Network, NIH

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs)	rs397509401

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