ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_024022.3(TMPRSS3):c.647G>T (p.Arg216Leu) rs137853000
NM_024022.3(TMPRSS3):c.753G>C (p.Trp251Cys) rs137852999
NM_024022.4(TMPRSS3):c.1211C>T rs28939084
NM_032404.2(TMPRSS3):c.-74A>G rs387906915
TMPRSS3, 1-BP DEL, 207C
TMPRSS3, 8-BP DEL, SATELLITE REPEAT INS
TMPRSS3, IVS4AS, G-A, -6

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