ClinVar Miner

List of variants in gene TRPV4 reported as likely pathogenic

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe) rs202066574 0.00013
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter) rs545966662 0.00005
NM_021625.5(TRPV4):c.1780C>T (p.Arg594Cys) rs868185064 0.00001
NM_021625.5(TRPV4):c.2211G>A (p.Trp737Ter) rs1035249096 0.00001
NM_021625.5(TRPV4):c.695G>A (p.Arg232His) rs769107613 0.00001
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys) rs267607146 0.00001
NM_021625.5(TRPV4):c.812G>A (p.Arg271His) rs387907219 0.00001
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val) rs751139506 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_021625.5(TRPV4):c.1124T>C (p.Met375Thr)
NM_021625.5(TRPV4):c.1303G>A (p.Glu435Lys) rs1890412444
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_021625.5(TRPV4):c.1596G>T (p.Leu532Phe)
NM_021625.5(TRPV4):c.1624T>C (p.Ser542Pro)
NM_021625.5(TRPV4):c.1625C>G (p.Ser542Cys) rs387906902
NM_021625.5(TRPV4):c.1628T>G (p.Leu543Arg) rs2136475122
NM_021625.5(TRPV4):c.1771T>A (p.Tyr591Asn) rs1890124015
NM_021625.5(TRPV4):c.1780C>A (p.Arg594Ser) rs868185064
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.5(TRPV4):c.1851C>A (p.Phe617Leu) rs515726162
NM_021625.5(TRPV4):c.1853T>C (p.Leu618Pro) rs515726163
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.5(TRPV4):c.2012T>C (p.Leu671Pro)
NM_021625.5(TRPV4):c.2146G>A (p.Ala716Thr) rs121912635
NM_021625.5(TRPV4):c.2324G>A (p.Arg775Lys) rs2136430908
NM_021625.5(TRPV4):c.2353T>C (p.Trp785Arg) rs2136417904
NM_021625.5(TRPV4):c.2386_2388del (p.Asn796del) rs1889549195
NM_021625.5(TRPV4):c.2391G>C (p.Glu797Asp) rs781358829
NM_021625.5(TRPV4):c.2399G>A (p.Gly800Asp) rs1555204615
NM_021625.5(TRPV4):c.2400C>G (p.Gly800=) rs1889547375
NM_021625.5(TRPV4):c.2400_2458+1del rs1889542235
NM_021625.5(TRPV4):c.2401A>G (p.Lys801Glu) rs1064795536
NM_021625.5(TRPV4):c.2480C>A (p.Pro827His) rs2136413100
NM_021625.5(TRPV4):c.290C>G (p.Pro97Arg) rs876661124
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.5(TRPV4):c.688C>T (p.Pro230Ser)
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.5(TRPV4):c.695G>C (p.Arg232Pro) rs769107613
NM_021625.5(TRPV4):c.710G>A (p.Arg237Gln) rs1289139464
NM_021625.5(TRPV4):c.710G>T (p.Arg237Leu) rs1289139464
NM_021625.5(TRPV4):c.805C>A (p.Arg269Ser) rs267607146
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.842A>C (p.Tyr281Ser) rs1555208063
NM_021625.5(TRPV4):c.944G>A (p.Arg315Gln) rs1064795696
NM_021625.5(TRPV4):c.946C>A (p.Arg316Ser) rs267607145
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021625.5(TRPV4):c.947G>T (p.Arg316Leu) rs387906905
NM_021625.5(TRPV4):c.992T>C (p.Ile331Thr) rs515726172

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