ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 8 by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs) rs397517376 0.00001
NM_001256317.3(TMPRSS3):c.383T>C (p.Met128Thr)

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