ClinVar Miner

List of variants in gene combination TBCEL-TECTA, TECTA reported as uncertain significance for Nonsyndromic Hearing Loss, Recessive

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.1049G>A (p.Arg350Gln) rs137951168 0.00001
NM_005422.4(TECTA):c.1285G>A (p.Val429Met) rs544916783 0.00001
NM_005422.4(TECTA):c.1694G>A (p.Cys565Tyr) rs886047838
NM_005422.4(TECTA):c.3762G>A (p.Met1254Ile) rs886047842

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