ClinVar Miner

List of variants in gene HUWE1 reported by Molecular Genetics Lab, CHRU Brest

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)	rs121918527	0.00002
NM_031407.7(HUWE1):c.5101G>A (p.Glu1701Lys)	rs2148314338
NM_031407.7(HUWE1):c.5339G>A (p.Arg1780His)

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