ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 8 by Genomics England Pilot Project, Genomics England

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Total variants: 2
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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.208del (p.His70fs) rs727503493

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