ClinVar Miner

List of variants in gene USP48 studied for nonsyndromic genetic hearing loss

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032236.8(USP48):c.1216G>A (p.Gly406Arg)
NM_032236.8(USP48):c.2215_2216delinsTT (p.Thr739Leu)
NM_032236.8(USP48):c.982G>A (p.Glu328Lys)

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