ClinVar Miner

List of variants reported 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: 12
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HGVS dbSNP
NM_001329752.2(FAM136A):c.547C>T (p.Gln183Ter)
NM_001331036.2(ELF2):c.10G>A (p.Ala4Thr) rs747574524
NM_001390.4(DTNA):c.2143G>T (p.Val715Phe)
NM_001829.4(CLCN3):c.2302A>G (p.Met768Val) rs770732784
NM_001937.5(DPT):c.544C>T (p.Arg182Cys) rs748718975
NM_002043.5(GABRR2):c.1003G>A (p.Val335Met) rs756735401
NM_002738.7(PRKCB):c.275G>T (p.Gly92Val) rs1131692056
NM_006150.5(PRICKLE3):c.609C>A (p.Ser203Arg) rs1057519388
NM_016483.7(PHF7):c.583C>T (p.His195Tyr) rs753391887
NM_024915.4(GRHL2):c.34G>T (p.Val12Leu) rs749906501
NM_152754.2(SEMA3D):c.1738C>T (p.Pro580Ser) rs1057519374
NM_181453.4(GCC2):c.1070A>G (p.Tyr357Cys) rs1057519387

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