ClinVar Miner

List of variants in gene TRPV4 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_021625.5(TRPV4):c.2559C>T (p.Cys853=) rs139580010 0.00021
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547 0.00020
NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu) rs201927283 0.00016
NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu) rs377518118 0.00016
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512 0.00015
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe) rs202066574 0.00013
NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu) rs756185743 0.00007
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021625.5(TRPV4):c.1491+5G>C rs375360273 0.00006
NM_021625.5(TRPV4):c.25C>T (p.Arg9Cys) rs758741868 0.00006
NM_021625.5(TRPV4):c.709C>T (p.Arg237Ter) rs746368269 0.00006
NM_021625.5(TRPV4):c.746G>A (p.Arg249His) rs771294425 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys) rs199624080 0.00005
NM_021625.5(TRPV4):c.2247C>T (p.Pro749=) rs141135321 0.00005
NM_021625.5(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023 0.00005
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln) rs770364304 0.00004
NM_021625.5(TRPV4):c.1543G>T (p.Val515Phe) rs777901220 0.00004
NM_021625.5(TRPV4):c.114T>A (p.Asn38Lys) rs878853090 0.00003
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His) rs377257364 0.00003
NM_021625.5(TRPV4):c.1379G>A (p.Arg460Gln) rs202244562 0.00003
NM_021625.5(TRPV4):c.1496C>T (p.Pro499Leu) rs115358347 0.00003
NM_021625.5(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422 0.00003
NM_021625.5(TRPV4):c.1981C>T (p.Arg661Cys) rs772074281 0.00003
NM_021625.5(TRPV4):c.2236C>T (p.Arg746Cys) rs375189134 0.00003
NM_021625.5(TRPV4):c.2513C>T (p.Pro838Leu) rs140602150 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_021625.5(TRPV4):c.478C>T (p.Arg160Trp) rs780102339 0.00003
NM_021625.5(TRPV4):c.1171C>T (p.Arg391Trp) rs775385702 0.00002
NM_021625.5(TRPV4):c.1198C>T (p.Arg400Trp) rs781711282 0.00002
NM_021625.5(TRPV4):c.1328T>C (p.Ile443Thr) rs1032807952 0.00002
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615 0.00002
NM_021625.5(TRPV4):c.1549A>G (p.Thr517Ala) rs1085307827 0.00002
NM_021625.5(TRPV4):c.191G>A (p.Arg64Gln) rs1199457372 0.00002
NM_021625.5(TRPV4):c.2106C>T (p.Tyr702=) rs373961067 0.00002
NM_021625.5(TRPV4):c.2158G>A (p.Glu720Lys) rs1481500312 0.00002
NM_021625.5(TRPV4):c.2269C>T (p.Arg757Cys) rs757814511 0.00002
NM_021625.5(TRPV4):c.2406T>G (p.Asn802Lys) rs747297905 0.00002
NM_021625.5(TRPV4):c.2585G>A (p.Arg862His) rs371989034 0.00002
NM_021625.5(TRPV4):c.29C>T (p.Ala10Val) rs772563295 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021625.5(TRPV4):c.704A>G (p.Tyr235Cys) rs754848195 0.00002
NM_021625.5(TRPV4):c.743G>A (p.Arg248His) rs759859968 0.00002
NM_021625.5(TRPV4):c.-16C>T rs762801533 0.00001
NM_021625.5(TRPV4):c.1064G>A (p.Arg355His) rs764715510 0.00001
NM_021625.5(TRPV4):c.1184C>T (p.Thr395Met) rs374197231 0.00001
NM_021625.5(TRPV4):c.1285G>A (p.Glu429Lys) rs879254080 0.00001
NM_021625.5(TRPV4):c.1297G>A (p.Val433Met) rs879254304 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.1392C>T (p.Arg464=) rs182609216 0.00001
NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr) rs546287338 0.00001
NM_021625.5(TRPV4):c.1478C>T (p.Pro493Leu) rs757284253 0.00001
NM_021625.5(TRPV4):c.1510A>G (p.Thr504Ala) rs762000967 0.00001
NM_021625.5(TRPV4):c.1577T>G (p.Phe526Cys) rs1329377960 0.00001
NM_021625.5(TRPV4):c.1586T>C (p.Ile529Thr) rs976191720 0.00001
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn) rs757630049 0.00001
NM_021625.5(TRPV4):c.1658+5G>A rs756714651 0.00001
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344 0.00001
NM_021625.5(TRPV4):c.2038A>G (p.Met680Val) rs114408421 0.00001
NM_021625.5(TRPV4):c.2198G>A (p.Trp733Ter) rs200757159 0.00001
NM_021625.5(TRPV4):c.2209-1G>A rs1262326007 0.00001
NM_021625.5(TRPV4):c.2211G>A (p.Trp737Ter) rs1035249096 0.00001
NM_021625.5(TRPV4):c.2349G>A (p.Val783=) rs778478432 0.00001
NM_021625.5(TRPV4):c.2387A>G (p.Asn796Ser) rs1188535536 0.00001
NM_021625.5(TRPV4):c.2447G>A (p.Arg816His) rs1431224527 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.2471C>T (p.Ser824Leu) rs764622721 0.00001
NM_021625.5(TRPV4):c.2558G>A (p.Cys853Tyr) rs771139646 0.00001
NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn) rs368963822 0.00001
NM_021625.5(TRPV4):c.340C>T (p.Arg114Cys) rs747135844 0.00001
NM_021625.5(TRPV4):c.345C>G (p.His115Gln) rs1420465373 0.00001
NM_021625.5(TRPV4):c.393G>A (p.Gln131=) rs754924433 0.00001
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) rs1193945019 0.00001
NM_021625.5(TRPV4):c.535C>T (p.Arg179Cys) rs751647405 0.00001
NM_021625.5(TRPV4):c.556C>T (p.Arg186Ter) rs773622769 0.00001
NM_021625.5(TRPV4):c.593C>G (p.Ala198Gly) rs775317084 0.00001
NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu) rs373980330 0.00001
NM_021625.5(TRPV4):c.695G>A (p.Arg232His) rs769107613 0.00001
NM_021625.5(TRPV4):c.69T>G (p.Ser23Arg) rs970940485 0.00001
NM_021625.5(TRPV4):c.712+5G>A rs372251308 0.00001
NM_021625.5(TRPV4):c.773T>C (p.Val258Ala) rs1555208102 0.00001
NM_021625.5(TRPV4):c.799C>G (p.Gln267Glu) rs1323996959 0.00001
NM_021625.5(TRPV4):c.811C>T (p.Arg271Cys) rs1227793261 0.00001
NM_021625.5(TRPV4):c.914C>T (p.Thr305Met) rs754582307 0.00001
NM_021625.5(TRPV4):c.1039G>C (p.Asp347His) rs1006063188
NM_021625.5(TRPV4):c.1083C>A (p.Asn361Lys) rs2136518359
NM_021625.5(TRPV4):c.1205T>C (p.Leu402Pro) rs1890419368
NM_021625.5(TRPV4):c.1233T>C (p.Tyr411=) rs886042740
NM_021625.5(TRPV4):c.1354G>A (p.Val452Met) rs2136485067
NM_021625.5(TRPV4):c.1367A>G (p.Asn456Ser)
NM_021625.5(TRPV4):c.1390C>G (p.Arg464Gly) rs373049874
NM_021625.5(TRPV4):c.1405G>A (p.Val469Ile)
NM_021625.5(TRPV4):c.1472A>G (p.Tyr491Cys) rs531738577
NM_021625.5(TRPV4):c.1492-1_1497delinsCCT rs1555206481
NM_021625.5(TRPV4):c.1515G>A (p.Thr505=) rs1056692999
NM_021625.5(TRPV4):c.155C>T (p.Ala52Val)
NM_021625.5(TRPV4):c.1625C>G (p.Ser542Cys) rs387906902
NM_021625.5(TRPV4):c.1642T>C (p.Ser548Pro) rs2136474950
NM_021625.5(TRPV4):c.179C>T (p.Pro60Leu) rs763266931
NM_021625.5(TRPV4):c.1813A>C (p.Met605Leu) rs1890120831
NM_021625.5(TRPV4):c.1825-15C>G rs200602134
NM_021625.5(TRPV4):c.1879G>A (p.Gly627Ser) rs998369017
NM_021625.5(TRPV4):c.2044G>A (p.Asp682Asn) rs968378720
NM_021625.5(TRPV4):c.2116A>C (p.Thr706Pro)
NM_021625.5(TRPV4):c.2135A>G (p.Asn712Ser)
NM_021625.5(TRPV4):c.2152A>C (p.Met718Leu) rs2136440758
NM_021625.5(TRPV4):c.2153T>C (p.Met718Thr) rs2136440741
NM_021625.5(TRPV4):c.221C>T (p.Ala74Val)
NM_021625.5(TRPV4):c.2230A>G (p.Ile744Val) rs776119724
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.2350A>G (p.Asn784Asp)
NM_021625.5(TRPV4):c.2387A>T (p.Asn796Ile) rs1188535536
NM_021625.5(TRPV4):c.243C>A (p.Asn81Lys)
NM_021625.5(TRPV4):c.2456G>A (p.Arg819Lys) rs1565857540
NM_021625.5(TRPV4):c.2462G>A (p.Arg821His) rs992984323
NM_021625.5(TRPV4):c.2489T>C (p.Val830Ala) rs1565856891
NM_021625.5(TRPV4):c.24C>A (p.Pro8=) rs1891762098
NM_021625.5(TRPV4):c.2521G>A (p.Val841Met) rs1592812166
NM_021625.5(TRPV4):c.2557_2586del (p.Cys853_Arg862del) rs1555204381
NM_021625.5(TRPV4):c.2584del (p.Arg862fs) rs746597270
NM_021625.5(TRPV4):c.259G>C (p.Glu87Gln)
NM_021625.5(TRPV4):c.272A>G (p.Tyr91Cys) rs1891736087
NM_021625.5(TRPV4):c.317C>A (p.Ser106Ter)
NM_021625.5(TRPV4):c.326A>G (p.Asp109Gly) rs1131691532
NM_021625.5(TRPV4):c.328T>C (p.Tyr110His) rs2136659313
NM_021625.5(TRPV4):c.37G>A (p.Gly13Arg) rs763302555
NM_021625.5(TRPV4):c.451C>T (p.Arg151Trp)
NM_021625.5(TRPV4):c.452G>A (p.Arg151Gln)
NM_021625.5(TRPV4):c.469A>G (p.Ile157Val)
NM_021625.5(TRPV4):c.478del (p.Arg160fs) rs1064796238
NM_021625.5(TRPV4):c.559+1G>A
NM_021625.5(TRPV4):c.569C>T (p.Thr190Met) rs1031096826
NM_021625.5(TRPV4):c.599T>C (p.Leu200Pro) rs2136560717
NM_021625.5(TRPV4):c.617G>T (p.Arg206Leu) rs373108373
NM_021625.5(TRPV4):c.713-14_713-9delinsCCCCCG rs2136538769
NM_021625.5(TRPV4):c.713-2dup rs760776284
NM_021625.5(TRPV4):c.722C>T (p.Ala241Val) rs2136538545
NM_021625.5(TRPV4):c.751A>C (p.Lys251Gln)
NM_021625.5(TRPV4):c.796G>A (p.Ala266Thr) rs752366465
NM_021625.5(TRPV4):c.799C>A (p.Gln267Lys) rs1323996959
NM_021625.5(TRPV4):c.826A>C (p.Lys276Gln) rs387906907
NM_021625.5(TRPV4):c.830A>G (p.Asp277Gly) rs879254007
NM_021625.5(TRPV4):c.847T>C (p.Tyr283His)
NM_021625.5(TRPV4):c.980C>G (p.Ala327Gly)

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