ClinVar Miner

List of variants in gene TRPV4 reported as likely pathogenic

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Gene type:
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Total variants: 13
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NM_021625.4(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_021625.4(TRPV4):c.1853T>C (p.Leu618Pro) rs515726163
NM_021625.4(TRPV4):c.2399G>A (p.Gly800Asp) rs1555204615
NM_021625.4(TRPV4):c.2401A>G (p.Lys801Glu) rs1064795536
NM_021625.4(TRPV4):c.290C>G (p.Pro97Arg) rs876661124
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.4(TRPV4):c.710G>T (p.Arg237Leu) rs1289139464
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) rs267607148
NM_021625.4(TRPV4):c.842A>C (p.Tyr281Ser) rs1555208063
NM_021625.4(TRPV4):c.944G>A (p.Arg315Gln) rs1064795696
NM_021625.4(TRPV4):c.946C>A (p.Arg316Ser) rs267607145
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905

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