ClinVar Miner

List of variants reported as 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: 4
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HGVS dbSNP
NM_001329752.2(FAM136A):c.547C>T (p.Gln183Ter)
NM_001937.5(DPT):c.544C>T (p.Arg182Cys) rs748718975
NM_002738.7(PRKCB):c.275G>T (p.Gly92Val) rs1131692056
NM_152754.2(SEMA3D):c.1738C>T (p.Pro580Ser) rs1057519374

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