ClinVar Miner

List of variants studied for Autosomal dominant nonsyndromic hearing loss 56 by Laboratory of Prof. Karen Avraham, Tel Aviv University

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002160.4(TNC):c.5317G>A (p.Val1773Met) rs137933052 0.00025
NM_002160.4(TNC):c.3413C>T (p.Thr1138Met) rs371671996 0.00005
NM_002160.4(TNC):c.2447A>G (p.Asp816Gly)
NM_002160.4(TNC):c.2941G>A (p.Ala981Thr)
NM_002160.4(TNC):c.3047G>A (p.Arg1016His)
NM_002160.4(TNC):c.323G>A (p.Arg108His)
NM_002160.4(TNC):c.3295_3297delinsAAT (p.Gln1099Asn)

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