ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 8 by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_001256317.3(TMPRSS3):c.646C>T (p.Arg216Cys) rs145913750 0.00002
NM_001256317.3(TMPRSS3):c.400A>T (p.Lys134Ter) rs2052672053
NM_001256317.3(TMPRSS3):c.749del (p.Leu250fs) rs2146436212

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