ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 8

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_001256317.3(TMPRSS3):c.647G>T (p.Arg216Leu) rs137853000 0.00003
NM_001256317.3(TMPRSS3):c.646C>T (p.Arg216Cys) rs145913750 0.00002
NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu) rs28939084 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys) rs373058706 0.00001
NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter) rs976363536 0.00001
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs) rs397517376 0.00001
NM_001256317.3(TMPRSS3):c.1048+1G>A rs1429442821
NM_001256317.3(TMPRSS3):c.1192-1G>C rs1601514990
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg) rs773780151
NM_001256317.3(TMPRSS3):c.147dup (p.Pro50fs) rs2146452391
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.308A>G (p.Asp103Gly) rs387906915
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001256317.3(TMPRSS3):c.400A>T (p.Lys134Ter) rs2052672053
NM_001256317.3(TMPRSS3):c.582T>A (p.Cys194Ter) rs1060499811
NM_001256317.3(TMPRSS3):c.749del (p.Leu250fs) rs2146436212
NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys) rs137852999
NM_001256317.3(TMPRSS3):c.783-1G>T rs1237955948
NM_001256317.3(TMPRSS3):c.999del (p.Asp334fs)
NM_024022.4:c.1180_1187delinsN1234

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