ClinVar Miner

List of variants in gene TRPV4 reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 8
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HGVS dbSNP
NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156
NM_021625.4(TRPV4):c.2102C>T (p.Thr701Ile)
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.4(TRPV4):c.58G>A (p.Gly20Arg) rs764970185
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.652G>A (p.Glu218Lys) rs515726168
NM_021625.4(TRPV4):c.694C>A (p.Arg232Ser)
NM_021625.4(TRPV4):c.904A>T (p.Asn302Tyr)

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