ClinVar Miner

List of variants in gene TRPV4 studied for Skeletal dysplasia

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Total variants: 28
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HGVS dbSNP
NM_021625.4(TRPV4):c.1024G>T (p.Val342Phe) rs515726152
NM_021625.4(TRPV4):c.1219A>G (p.Lys407Glu) rs515726153
NM_021625.4(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_021625.4(TRPV4):c.1566_1568dupCCT rs515726155
NM_021625.4(TRPV4):c.1774T>C (p.Phe592Leu) rs515726158
NM_021625.4(TRPV4):c.1787T>C (p.Leu596Pro) rs515726159
NM_021625.4(TRPV4):c.1798G>T (p.Gly600Trp) rs515726160
NM_021625.4(TRPV4):c.1805A>G (p.Tyr602Cys) rs267607150
NM_021625.4(TRPV4):c.1812C>G (p.Ile604Met) rs515726161
NM_021625.4(TRPV4):c.1847G>A (p.Arg616Gln) rs121912632
NM_021625.4(TRPV4):c.1851C>A (p.Phe617Leu) rs515726162
NM_021625.4(TRPV4):c.1853T>C (p.Leu618Pro) rs515726163
NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.4(TRPV4):c.1875G>A (p.Met625Ile) rs515726164
NM_021625.4(TRPV4):c.2125C>A (p.Leu709Met) rs116571438
NM_021625.4(TRPV4):c.2146G>T (p.Ala716Ser) rs121912635
NM_021625.4(TRPV4):c.2330G>A (p.Cys777Tyr) rs515726165
NM_021625.4(TRPV4):c.2395C>T (p.Pro799Ser) rs267607147
NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.4(TRPV4):c.266C>T (p.Thr89Ile) rs397514473
NM_021625.4(TRPV4):c.547G>A (p.Glu183Lys) rs387906324
NM_021625.4(TRPV4):c.590A>G (p.Lys197Arg) rs387906903
NM_021625.4(TRPV4):c.597G>C (p.Leu199Phe) rs515726167
NM_021625.4(TRPV4):c.717G>C (p.Gln239His) rs515726169
NM_021625.4(TRPV4):c.883A>G (p.Thr295Ala) rs515726171
NM_021625.4(TRPV4):c.991A>T (p.Ile331Phe) rs121912636
NM_021625.4(TRPV4):c.992T>C (p.Ile331Thr) rs515726172
NM_021625.4(TRPV4):c.998A>G (p.Asp333Gly) rs121912634

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