ClinVar Miner

List of variants in gene USP48 studied for Hearing loss, autosomal dominant 85

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_032236.8(USP48):c.1216G>A (p.Gly406Arg)	rs201971084	0.00008
NM_032236.8(USP48):c.2215_2216delinsTT (p.Thr739Leu)	rs2550305195
NM_032236.8(USP48):c.982G>A (p.Glu328Lys)	rs2550460937

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