ClinVar Miner

List of variants reported as likely pathogenic 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
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126
NM_000260.4(MYO7A):c.4635G>A (p.Trp1545Ter)
NM_001198938.2(DTNA):c.1963G>T (p.Val655Phe)
NM_001277269.2(OTOG):c.[421G>A] rs552304627
NM_001331036.2(ELF2):c.10G>A (p.Ala4Thr) rs747574524

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