ClinVar Miner

List of variants in gene TRPV4 reported by GeneReviews

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_021625.5(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156 0.00001
NM_021625.5(TRPV4):c.2198G>A (p.Trp733Ter) rs200757159 0.00001
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys) rs267607146 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_021625.5(TRPV4):c.1024G>T (p.Val342Phe) rs515726152
NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu) rs515726153
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_021625.5(TRPV4):c.1566_1568dup (p.Leu523dup) rs515726155
NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr) rs387906902
NM_021625.5(TRPV4):c.1772A>G (p.Tyr591Cys) rs515726157
NM_021625.5(TRPV4):c.1774T>C (p.Phe592Leu) rs515726158
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.5(TRPV4):c.1787T>C (p.Leu596Pro) rs515726159
NM_021625.5(TRPV4):c.1798G>T (p.Gly600Trp) rs515726160
NM_021625.5(TRPV4):c.1805A>G (p.Tyr602Cys) rs267607150
NM_021625.5(TRPV4):c.1812C>G (p.Ile604Met) rs515726161
NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln) rs121912632
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.1875G>A (p.Met625Ile) rs515726164
NM_021625.5(TRPV4):c.2125C>A (p.Leu709Met) rs116571438
NM_021625.5(TRPV4):c.2146G>T (p.Ala716Ser) rs121912635
NM_021625.5(TRPV4):c.2219C>T (p.Thr740Ile) rs387906906
NM_021625.5(TRPV4):c.232G>T (p.Gly78Trp) rs397514474
NM_021625.5(TRPV4):c.2330G>A (p.Cys777Tyr) rs515726165
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys) rs267607149
NM_021625.5(TRPV4):c.2395C>T (p.Pro799Ser) rs267607147
NM_021625.5(TRPV4):c.2396C>G (p.Pro799Arg) rs121912637
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.5(TRPV4):c.2396_2412del (p.Pro799fs) rs515726166
NM_021625.5(TRPV4):c.266C>T (p.Thr89Ile) rs397514473
NM_021625.5(TRPV4):c.547G>A (p.Glu183Lys) rs387906324
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.5(TRPV4):c.590A>G (p.Lys197Arg) rs387906903
NM_021625.5(TRPV4):c.597G>C (p.Leu199Phe) rs515726167
NM_021625.5(TRPV4):c.652G>A (p.Glu218Lys) rs515726168
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.5(TRPV4):c.717G>C (p.Gln239His) rs515726169
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.809G>T (p.Gly270Val) rs387907220
NM_021625.5(TRPV4):c.812G>C (p.Arg271Pro) rs387907219
NM_021625.5(TRPV4):c.819C>G (p.Phe273Leu) rs515726170
NM_021625.5(TRPV4):c.826A>G (p.Lys276Glu) rs387906907
NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys) rs267607148
NM_021625.5(TRPV4):c.883A>G (p.Thr295Ala) rs515726171
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021625.5(TRPV4):c.991A>T (p.Ile331Phe) rs121912636
NM_021625.5(TRPV4):c.992T>C (p.Ile331Thr) rs515726172
NM_021625.5(TRPV4):c.998A>G (p.Asp333Gly) rs121912634

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