ClinVar Miner

List of variants reported as benign for Deafness, autosomal recessive 8

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Total variants: 13
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HGVS dbSNP
NM_001256317.3(TMPRSS3):c.*2G>A rs13047838
NM_001256317.3(TMPRSS3):c.-51-7G>C rs4920100
NM_001256317.3(TMPRSS3):c.157G>A (p.Val53Ile) rs928302
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239
NM_001256317.3(TMPRSS3):c.331G>A (p.Gly111Ser) rs35227181
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564
NM_001256317.3(TMPRSS3):c.447-13A>G rs8130564
NM_001256317.3(TMPRSS3):c.453G>A (p.Val151=) rs2839501
NM_001256317.3(TMPRSS3):c.757A>G (p.Ile253Val) rs2839500
NM_001256317.3(TMPRSS3):c.933C>T (p.Ala311=) rs145235893
NM_024022.3(TMPRSS3):c.*206A>G rs225309
NM_024022.3(TMPRSS3):c.231C>T (p.Tyr77=) rs139934512
NM_024022.3(TMPRSS3):c.617-3_617-2insTA rs1601523730

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