ClinVar Miner

List of variants reported as likely pathogenic for Deafness, autosomal recessive 8

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Total variants: 8
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NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met)
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764
NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln)
NM_024022.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_024022.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921
NM_024022.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033

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