ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2C by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.695G>A (p.Arg232His) rs769107613 0.00001
NM_021625.5(TRPV4):c.2199G>A (p.Trp733Ter)
NM_021625.5(TRPV4):c.476C>A (p.Ser159Tyr)

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