ClinVar Miner

List of variants in gene TRPV4 reported as pathogenic for TRPV4-related bone disorder

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.1207T>A (p.Ser403Thr) rs1565868973
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.1781G>A (p.Arg594His) rs77975504
NM_021625.5(TRPV4):c.1805A>G (p.Tyr602Cys) rs267607150
NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln) rs121912632
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.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.2389G>A (p.Glu797Lys) rs267607149
NM_021625.5(TRPV4):c.2395C>G (p.Pro799Ala) rs267607147
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.245C>T (p.Pro82Leu) rs767079858
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.590A>G (p.Lys197Arg) rs387906903
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.991A>T (p.Ile331Phe) rs121912636
NM_021625.5(TRPV4):c.998A>G (p.Asp333Gly) rs121912634

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