ClinVar Miner

List of variants reported as likely benign by Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO)

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231 0.01911
NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn) rs61997203 0.01716
NM_001292063.2(OTOG):c.4606C>T (p.Leu1536Phe) rs117380920 0.00806
NM_006741.4(PPP1R1A):c.310G>A (p.Ala104Thr) rs202211027 0.00058
NM_001388459.1(FRMPD3):c.4068C>G (p.Ser1356Arg) rs183198624

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