ClinVar Miner

List of variants reported as likely pathogenic for Meniere disease 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)

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser) rs138558321 0.00238
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_022124.6(CDH23):c.6512G>A (p.Arg2171His) rs531513127 0.00006
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126 0.00002
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe) rs533568822 0.00001
NM_000260.4(MYO7A):c.4635G>A (p.Trp1545Ter) rs918353878
NM_005422.4(TECTA):c.4422del (p.Asn1474fs) rs2135120291
NM_005422.4(TECTA):c.6353del (p.Gly2118fs) rs1223512271

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