ClinVar Miner

List of variants in gene TMPRSS3 reported as pathogenic for Deafness, autosomal recessive 8

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Total variants: 15
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HGVS dbSNP
NM_001256317.3(TMPRSS3):c.1192-1G>C rs1601514990
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.916G>A (p.Ala306Thr) rs181949335
NM_024022.3(TMPRSS3):c.1048+1G>A rs1429442821
NM_024022.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_024022.3(TMPRSS3):c.647G>T (p.Arg216Leu) rs137853000
NM_024022.3(TMPRSS3):c.753G>C (p.Trp251Cys) rs137852999
NM_024022.3(TMPRSS3):c.783-1G>T rs1237955948
NM_024022.4(TMPRSS3):c.1211C>T rs28939084
NM_032404.2(TMPRSS3):c.-74A>G rs387906915
NM_032405.2(TMPRSS3):c.582T>A (p.Cys194Ter) rs1060499811
TMPRSS3, 1-BP DEL, 207C
TMPRSS3, 8-BP DEL, SATELLITE REPEAT INS
TMPRSS3, IVS4AS, G-A, -6

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