ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 3 by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.6728C>T (p.Thr2243Met) rs753611930 0.00010
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs) rs1221876133 0.00001
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter) rs1567649945

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