ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 8 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564 0.02161
NM_001256317.3(TMPRSS3):c.617-18C>T rs225431 0.00940
NM_001256317.3(TMPRSS3):c.933C>T (p.Ala311=) rs145235893 0.00153
NM_001256317.3(TMPRSS3):c.231C>T (p.Tyr77=) rs139934512 0.00125
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432

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