ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 8 by Fulgent Genetics, Fulgent Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_001256317.3(TMPRSS3):c.952+17A>G rs115489719 0.01047
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.1042G>A (p.Asp348Asn) rs111033261 0.00071
NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) rs143762350 0.00011
NM_001256317.3(TMPRSS3):c.1169C>T (p.Thr390Met) rs145766262 0.00006
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_001256317.3(TMPRSS3):c.764C>T (p.Ala255Val) rs758738833 0.00002
NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp) rs781395690 0.00001
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg) rs773780151
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493

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