ClinVar Miner

List of variants in gene TRPV4 reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.670A>C (p.Arg224=) rs3825394 0.60669
NM_021625.5(TRPV4):c.2034C>T (p.Ile678=) rs3742037 0.14446
NM_021625.5(TRPV4):c.789T>C (p.Asp263=) rs3742034 0.12664
NM_021625.5(TRPV4):c.795C>T (p.His265=) rs1344554 0.08478
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_021625.5(TRPV4):c.387-4C>T rs12305439 0.01630
NM_021625.5(TRPV4):c.33G>T (p.Gly11=) rs56092423 0.00939
NM_021625.5(TRPV4):c.1341C>T (p.His447=) rs57316123 0.00683
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00673
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=) rs35078611 0.00542
NM_021625.5(TRPV4):c.712+10C>T rs115657305 0.00260
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met) rs185933892 0.00191
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_021625.5(TRPV4):c.57C>T (p.Pro19=) rs112408790 0.00161
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_021625.5(TRPV4):c.549G>A (p.Glu183=) rs141908793 0.00058
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu) rs115861965 0.00043
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_021625.5(TRPV4):c.1464C>T (p.Thr488=) rs146841400 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_021625.5(TRPV4):c.501C>T (p.Asp167=) rs77680510 0.00026
NM_021625.5(TRPV4):c.1884C>T (p.Tyr628=) rs369752162 0.00016
NM_021625.5(TRPV4):c.661G>A (p.Gly221Ser) rs373539744 0.00016
NM_021625.5(TRPV4):c.1278G>A (p.Thr426=) rs139179261 0.00015
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=) rs146929022 0.00010
NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu) rs756185743 0.00007
NM_021625.5(TRPV4):c.655C>T (p.Arg219Cys) rs754023659 0.00007
NM_021625.5(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023 0.00005
NM_021625.5(TRPV4):c.191G>A (p.Arg64Gln) rs1199457372 0.00002
NM_021625.5(TRPV4):c.2585G>A (p.Arg862His) rs371989034 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021625.5(TRPV4):c.743G>A (p.Arg248His) rs759859968 0.00002
NM_021625.5(TRPV4):c.1064G>A (p.Arg355His) rs764715510 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.1478C>T (p.Pro493Leu) rs757284253 0.00001
NM_021625.5(TRPV4):c.1658+5G>A rs756714651 0.00001
NM_021625.5(TRPV4):c.2076C>T (p.Pro692=) rs769988861 0.00001
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168 0.00001
NM_021625.5(TRPV4):c.2452C>T (p.Arg818Cys) rs776544875 0.00001
NM_021625.5(TRPV4):c.2458G>T (p.Asp820Tyr) rs768849310 0.00001
NM_021625.5(TRPV4):c.345C>G (p.His115Gln) rs1420465373 0.00001
NM_021625.5(TRPV4):c.472G>A (p.Val158Met) rs746905653 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.1337G>T (p.Arg446Leu) rs143502097
NM_021625.5(TRPV4):c.1367A>G (p.Asn456Ser)
NM_021625.5(TRPV4):c.2256G>A (p.Leu752=) rs2136431404
NM_021625.5(TRPV4):c.2273C>G (p.Ser758Cys) rs778014423
NM_021625.5(TRPV4):c.24C>A (p.Pro8=) rs1891762098
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.5(TRPV4):c.799C>A (p.Gln267Lys) rs1323996959
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.