ClinVar Miner

List of variants in gene TRPV4 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 276
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HGVS dbSNP
NM_021625.4(TRPV4):c.*212G>A rs886048938
NM_021625.4(TRPV4):c.*405G>A rs886048937
NM_021625.4(TRPV4):c.*51G>A rs886048939
NM_021625.4(TRPV4):c.*99C>T rs552478250
NM_021625.4(TRPV4):c.1006C>T (p.Arg336Cys) rs781229110
NM_021625.4(TRPV4):c.1038C>T (p.Tyr346=) rs750086412
NM_021625.4(TRPV4):c.1039G>C (p.Asp347His) rs1006063188
NM_021625.4(TRPV4):c.1039G>T (p.Asp347Tyr) rs1006063188
NM_021625.4(TRPV4):c.1076_1093del (p.Asp359_Ala364del) rs1592838554
NM_021625.4(TRPV4):c.1115C>T (p.Ser372Leu) rs1479394096
NM_021625.4(TRPV4):c.1139C>T (p.Thr380Met) rs764949536
NM_021625.4(TRPV4):c.114T>A (p.Asn38Lys) rs878853090
NM_021625.4(TRPV4):c.1175G>C (p.Arg392Pro) rs770364304
NM_021625.4(TRPV4):c.1184C>T (p.Thr395Met) rs374197231
NM_021625.4(TRPV4):c.1198C>T (p.Arg400Trp) rs781711282
NM_021625.4(TRPV4):c.1199G>A (p.Arg400Gln) rs926925253
NM_021625.4(TRPV4):c.1211G>A (p.Arg404His) rs377257364
NM_021625.4(TRPV4):c.1277C>T (p.Thr426Met) rs757522459
NM_021625.4(TRPV4):c.1285G>A (p.Glu429Lys) rs879254080
NM_021625.4(TRPV4):c.1297G>A (p.Val433Met) rs879254304
NM_021625.4(TRPV4):c.1328T>C (p.Ile443Thr) rs1032807952
NM_021625.4(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.4(TRPV4):c.1342G>A (p.Glu448Lys) rs373103155
NM_021625.4(TRPV4):c.1352C>T (p.Ala451Val) rs886048940
NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615
NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547
NM_021625.4(TRPV4):c.137C>T (p.Ser46Phe) rs202066574
NM_021625.4(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874
NM_021625.4(TRPV4):c.1392C>T (p.Arg464=) rs182609216
NM_021625.4(TRPV4):c.1439G>T (p.Cys480Phe) rs943346163
NM_021625.4(TRPV4):c.1445T>C (p.Met482Thr) rs1565866454
NM_021625.4(TRPV4):c.1450A>G (p.Ile484Val) rs1555206591
NM_021625.4(TRPV4):c.145C>A (p.Pro49Thr) rs546287338
NM_021625.4(TRPV4):c.1465G>A (p.Ala489Thr) rs758280554
NM_021625.4(TRPV4):c.1472A>G (p.Tyr491Cys) rs531738577
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.1491+5G>A rs375360273
NM_021625.4(TRPV4):c.1492-1_1497delinsCCT rs1555206481
NM_021625.4(TRPV4):c.1493C>T (p.Pro498Leu) rs1051494811
NM_021625.4(TRPV4):c.1505A>T (p.Tyr502Phe) rs1592830087
NM_021625.4(TRPV4):c.1514C>T (p.Thr505Met) rs375574238
NM_021625.4(TRPV4):c.1515G>A (p.Thr505=) rs1056692999
NM_021625.4(TRPV4):c.1522T>C (p.Tyr508His) rs1167973138
NM_021625.4(TRPV4):c.1528C>T (p.Arg510Trp) rs918220829
NM_021625.4(TRPV4):c.153G>A (p.Pro51=) rs577306678
NM_021625.4(TRPV4):c.1543G>T (p.Val515Phe) rs777901220
NM_021625.4(TRPV4):c.1549A>G (p.Thr517Ala) rs1085307827
NM_021625.4(TRPV4):c.1577T>G (p.Phe526Cys) rs1329377960
NM_021625.4(TRPV4):c.1584C>T (p.Asn528=) rs142749412
NM_021625.4(TRPV4):c.159T>A (p.Asp53Glu) rs765021989
NM_021625.4(TRPV4):c.1601T>C (p.Met534Thr) rs775011025
NM_021625.4(TRPV4):c.1627C>T (p.Leu543Phe) rs779325064
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021625.4(TRPV4):c.1658+5G>A rs756714651
NM_021625.4(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.4(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344
NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156
NM_021625.4(TRPV4):c.1706C>G (p.Ala569Gly) rs1565864489
NM_021625.4(TRPV4):c.171T>C (p.Pro57=) rs886048941
NM_021625.4(TRPV4):c.1729G>A (p.Val577Met) rs140535889
NM_021625.4(TRPV4):c.1796C>G (p.Thr599Arg) rs769225216
NM_021625.4(TRPV4):c.1825-15C>G rs200602134
NM_021625.4(TRPV4):c.1825-8G>A rs1565864062
NM_021625.4(TRPV4):c.183C>T (p.Gly61=) rs773744592
NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) rs770149544
NM_021625.4(TRPV4):c.1885G>A (p.Ala629Thr) rs200838499
NM_021625.4(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422
NM_021625.4(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636
NM_021625.4(TRPV4):c.1957A>C (p.Thr653Pro) rs769927678
NM_021625.4(TRPV4):c.1957A>G (p.Thr653Ala) rs769927678
NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512
NM_021625.4(TRPV4):c.1981C>T (p.Arg661Cys) rs772074281
NM_021625.4(TRPV4):c.1989C>G (p.Ser663Arg) rs778560334
NM_021625.4(TRPV4):c.202C>T (p.Arg68Cys) rs199624080
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) rs200199102
NM_021625.4(TRPV4):c.2077G>A (p.Val693Met) rs761952727
NM_021625.4(TRPV4):c.2102C>T (p.Thr701Ile) rs1592820343
NM_021625.4(TRPV4):c.2106C>T (p.Tyr702=) rs373961067
NM_021625.4(TRPV4):c.2162C>G (p.Thr721Arg) rs1423138633
NM_021625.4(TRPV4):c.2198G>A (p.Trp733Ter) rs200757159
NM_021625.4(TRPV4):c.2211G>A (p.Trp737Ter) rs1035249096
NM_021625.4(TRPV4):c.2211G>C (p.Trp737Cys) rs1035249096
NM_021625.4(TRPV4):c.2236C>G (p.Arg746Gly) rs375189134
NM_021625.4(TRPV4):c.2236C>T (p.Arg746Cys) rs375189134
NM_021625.4(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_021625.4(TRPV4):c.2247C>T (p.Pro749=) rs141135321
NM_021625.4(TRPV4):c.2273C>G (p.Ser758Cys) rs778014423
NM_021625.4(TRPV4):c.2290G>T (p.Val764Leu) rs750416252
NM_021625.4(TRPV4):c.229A>G (p.Lys77Glu) rs1565883324
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919
NM_021625.4(TRPV4):c.2387A>G (p.Asn796Ser) rs1188535536
NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168
NM_021625.4(TRPV4):c.2432C>T (p.Ser811Leu) rs756076344
NM_021625.4(TRPV4):c.2439C>T (p.Thr813=) rs545589086
NM_021625.4(TRPV4):c.2440G>T (p.Val814Leu) rs202075458
NM_021625.4(TRPV4):c.2447G>A (p.Arg816His) rs1431224527
NM_021625.4(TRPV4):c.2452C>T (p.Arg818Cys) rs776544875
NM_021625.4(TRPV4):c.2456G>A (p.Arg819Lys) rs1565857540
NM_021625.4(TRPV4):c.2471C>T (p.Ser824Leu) rs764622721
NM_021625.4(TRPV4):c.2479C>G (p.Pro827Ala) rs1555204455
NM_021625.4(TRPV4):c.2482C>A (p.Arg828Ser) rs1467984181
NM_021625.4(TRPV4):c.2489T>C (p.Val830Ala) rs1565856891
NM_021625.4(TRPV4):c.2495T>G (p.Leu832Arg) rs1565856842
NM_021625.4(TRPV4):c.2499C>A (p.Asn833Lys) rs147045782
NM_021625.4(TRPV4):c.2513C>T (p.Pro838Leu) rs140602150
NM_021625.4(TRPV4):c.2521G>A (p.Val841Met) rs1592812166
NM_021625.4(TRPV4):c.2557_2586del (p.Cys853_Arg862del) rs1555204381
NM_021625.4(TRPV4):c.2559C>T (p.Cys853=) rs139580010
NM_021625.4(TRPV4):c.2560G>A (p.Asp854Asn) rs368963822
NM_021625.4(TRPV4):c.2560G>C (p.Asp854His) rs368963822
NM_021625.4(TRPV4):c.2570A>G (p.Gln857Arg) rs1262126429
NM_021625.4(TRPV4):c.2584del (p.Arg862fs) rs746597270
NM_021625.4(TRPV4):c.2585G>A (p.Arg862His) rs371989034
NM_021625.4(TRPV4):c.25C>T (p.Arg9Cys) rs758741868
NM_021625.4(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764
NM_021625.4(TRPV4):c.26G>A (p.Arg9His) rs776163103
NM_021625.4(TRPV4):c.281C>T (p.Ser94Leu) rs201927283
NM_021625.4(TRPV4):c.290C>G (p.Pro97Arg) rs876661124
NM_021625.4(TRPV4):c.326A>G (p.Asp109Gly) rs1131691532
NM_021625.4(TRPV4):c.331G>A (p.Gly111Ser) rs768721947
NM_021625.4(TRPV4):c.345C>G (p.His115Gln) rs1420465373
NM_021625.4(TRPV4):c.34C>T (p.Pro12Ser) rs1416476726
NM_021625.4(TRPV4):c.37G>A (p.Gly13Arg) rs763302555
NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) rs763302555
NM_021625.4(TRPV4):c.395C>T (p.Pro132Leu) rs779371027
NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg) rs201241092
NM_021625.4(TRPV4):c.427C>A (p.Pro143Thr) rs201642486
NM_021625.4(TRPV4):c.472G>A (p.Val158Met) rs746905653
NM_021625.4(TRPV4):c.478del (p.Arg160fs) rs1064796238
NM_021625.4(TRPV4):c.479G>A (p.Arg160Gln) rs139300843
NM_021625.4(TRPV4):c.50A>G (p.Glu17Gly) rs989621170
NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) rs146304351
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.4(TRPV4):c.556C>T (p.Arg186Ter) rs773622769
NM_021625.4(TRPV4):c.569C>T (p.Thr190Met) rs1031096826
NM_021625.4(TRPV4):c.58G>A (p.Gly20Arg) rs764970185
NM_021625.4(TRPV4):c.593C>G (p.Ala198Gly) rs775317084
NM_021625.4(TRPV4):c.602A>G (p.Asn201Ser) rs1555208698
NM_021625.4(TRPV4):c.616C>T (p.Arg206Cys) rs200497189
NM_021625.4(TRPV4):c.617G>A (p.Arg206His) rs373108373
NM_021625.4(TRPV4):c.622G>A (p.Asp208Asn) rs769445973
NM_021625.4(TRPV4):c.646A>G (p.Ile216Val) rs1318320106
NM_021625.4(TRPV4):c.649G>A (p.Ala217Thr) rs187864727
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.650C>T (p.Ala217Val) rs548909101
NM_021625.4(TRPV4):c.651G>A (p.Ala217=) rs371280831
NM_021625.4(TRPV4):c.652G>A (p.Glu218Lys) rs515726168
NM_021625.4(TRPV4):c.655C>T (p.Arg219Cys) rs754023659
NM_021625.4(TRPV4):c.656G>A (p.Arg219His) rs767331924
NM_021625.4(TRPV4):c.661G>A (p.Gly221Ser) rs373539744
NM_021625.4(TRPV4):c.670_671delinsCA (p.Arg224Gln) rs1555208643
NM_021625.4(TRPV4):c.673del (p.Glu225fs) rs1191019525
NM_021625.4(TRPV4):c.686C>T (p.Ser229Leu) rs373980330
NM_021625.4(TRPV4):c.694C>A (p.Arg232Ser) rs387906904
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.4(TRPV4):c.695G>A (p.Arg232His) rs769107613
NM_021625.4(TRPV4):c.701T>C (p.Ile234Thr) rs1555208627
NM_021625.4(TRPV4):c.704A>G (p.Tyr235Cys) rs754848195
NM_021625.4(TRPV4):c.709C>T (p.Arg237Ter) rs746368269
NM_021625.4(TRPV4):c.711A>G (p.Arg237=) rs927188562
NM_021625.4(TRPV4):c.712+5G>A rs372251308
NM_021625.4(TRPV4):c.737T>C (p.Ile246Thr) rs1200887655
NM_021625.4(TRPV4):c.743G>A (p.Arg248His) rs759859968
NM_021625.4(TRPV4):c.746G>A (p.Arg249His) rs771294425
NM_021625.4(TRPV4):c.773T>C (p.Val258Ala) rs1555208102
NM_021625.4(TRPV4):c.805C>A (p.Arg269Ser) rs267607146
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) rs267607146
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.820C>T (p.Gln274Ter) rs1592842140
NM_021625.4(TRPV4):c.827A>C (p.Lys276Thr) rs1592842115
NM_021625.4(TRPV4):c.830A>G (p.Asp277Gly) rs879254007
NM_021625.4(TRPV4):c.834G>T (p.Glu278Asp) rs529115496
NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023
NM_021625.4(TRPV4):c.855G>T (p.Gly285=) rs879253959
NM_021625.4(TRPV4):c.877G>A (p.Ala293Thr) rs1054889070
NM_021625.4(TRPV4):c.898A>G (p.Ile300Val) rs114612488
NM_021625.4(TRPV4):c.904A>T (p.Asn302Tyr) rs780551685
NM_021625.4(TRPV4):c.914C>T (p.Thr305Met) rs754582307
NM_021625.4(TRPV4):c.915G>A (p.Thr305=) rs1565870990
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val) rs751139506
NM_021625.4(TRPV4):c.940A>G (p.Met314Val) rs151101009
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) rs267607143
NM_021625.4(TRPV4):c.944G>A (p.Arg315Gln) rs1064795696
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021625.4(TRPV4):c.956C>T (p.Ser319Leu) rs377518118
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_021625.4(TRPV4):c.963C>A (p.Gly321=) rs148534854
NM_021625.5(TRPV4):c.*145C>T
NM_021625.5(TRPV4):c.*227A>G
NM_021625.5(TRPV4):c.*2G>A
NM_021625.5(TRPV4):c.*303G>A
NM_021625.5(TRPV4):c.*411A>G
NM_021625.5(TRPV4):c.*421G>A
NM_021625.5(TRPV4):c.*500C>T
NM_021625.5(TRPV4):c.*83C>G
NM_021625.5(TRPV4):c.-16C>T
NM_021625.5(TRPV4):c.-31-3C>T
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn)
NM_021625.5(TRPV4):c.1075G>A (p.Asp359Asn)
NM_021625.5(TRPV4):c.1084C>A (p.Leu362Met)
NM_021625.5(TRPV4):c.1087_1088delinsTT (p.Glu363Leu)
NM_021625.5(TRPV4):c.1108G>A (p.Gly370Ser)
NM_021625.5(TRPV4):c.1162C>T (p.His388Tyr)
NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp)
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln)
NM_021625.5(TRPV4):c.1178A>T (p.Glu393Val)
NM_021625.5(TRPV4):c.124G>T (p.Gly42Trp)
NM_021625.5(TRPV4):c.1265C>A (p.Ser422Tyr)
NM_021625.5(TRPV4):c.1283G>A (p.Gly428Glu)
NM_021625.5(TRPV4):c.1309C>G (p.Leu437Val)
NM_021625.5(TRPV4):c.1496C>T (p.Pro499Leu)
NM_021625.5(TRPV4):c.1510A>G (p.Thr504Ala)
NM_021625.5(TRPV4):c.1529G>A (p.Arg510Gln) rs1191951496
NM_021625.5(TRPV4):c.1570TTC[2] (p.Phe526del)
NM_021625.5(TRPV4):c.1584+1G>C
NM_021625.5(TRPV4):c.166C>T (p.Arg56Cys)
NM_021625.5(TRPV4):c.167G>T (p.Arg56Leu)
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs)
NM_021625.5(TRPV4):c.179C>T (p.Pro60Leu) rs763266931
NM_021625.5(TRPV4):c.1867del (p.Leu623fs)
NM_021625.5(TRPV4):c.1924A>T (p.Met642Leu)
NM_021625.5(TRPV4):c.195A>G (p.Pro65=)
NM_021625.5(TRPV4):c.1987A>G (p.Ser663Gly)
NM_021625.5(TRPV4):c.2013G>A (p.Leu671=)
NM_021625.5(TRPV4):c.203G>A (p.Arg68His)
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp)
NM_021625.5(TRPV4):c.2044G>A (p.Asp682Asn)
NM_021625.5(TRPV4):c.209A>T (p.Lys70Met)
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp)
NM_021625.5(TRPV4):c.2117C>A (p.Thr706Asn)
NM_021625.5(TRPV4):c.214C>T (p.Gln72Ter)
NM_021625.5(TRPV4):c.2167G>A (p.Gly723Ser)
NM_021625.5(TRPV4):c.2251T>C (p.Phe751Leu)
NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys)
NM_021625.5(TRPV4):c.2264C>T (p.Ala755Val)
NM_021625.5(TRPV4):c.226C>T (p.Arg76Cys)
NM_021625.5(TRPV4):c.227G>T (p.Arg76Leu)
NM_021625.5(TRPV4):c.2336+1G>A
NM_021625.5(TRPV4):c.2378G>A (p.Gly793Asp)
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)
NM_021625.5(TRPV4):c.2446C>T (p.Arg816Cys)
NM_021625.5(TRPV4):c.2459A>G (p.Asp820Gly)
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu)
NM_021625.5(TRPV4):c.2524G>A (p.Val842Met)
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)
NM_021625.5(TRPV4):c.2555G>A (p.Arg852His)
NM_021625.5(TRPV4):c.2609C>T (p.Pro870Leu)
NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp)
NM_021625.5(TRPV4):c.283G>A (p.Val95Met)
NM_021625.5(TRPV4):c.29C>T (p.Ala10Val) rs772563295
NM_021625.5(TRPV4):c.341G>A (p.Arg114His)
NM_021625.5(TRPV4):c.37G>C (p.Gly13Arg)
NM_021625.5(TRPV4):c.386+1G>A
NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser)
NM_021625.5(TRPV4):c.409G>C (p.Ala137Pro) rs1592853492
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)
NM_021625.5(TRPV4):c.442G>A (p.Val148Ile)
NM_021625.5(TRPV4):c.449A>T (p.Asn150Ile)
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg)
NM_021625.5(TRPV4):c.535C>T (p.Arg179Cys)
NM_021625.5(TRPV4):c.69T>G (p.Ser23Arg)
NM_021625.5(TRPV4):c.712+1G>T
NM_021625.5(TRPV4):c.713-2dup
NM_021625.5(TRPV4):c.713-7C>G
NM_021625.5(TRPV4):c.733G>A (p.Ala245Thr)
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)
NM_021625.5(TRPV4):c.745C>T (p.Arg249Cys)
NM_021625.5(TRPV4):c.796G>C (p.Ala266Pro)
NM_021625.5(TRPV4):c.797C>T (p.Ala266Val)
NM_021625.5(TRPV4):c.799C>A (p.Gln267Lys) rs1323996959
NM_021625.5(TRPV4):c.812G>A (p.Arg271His)
NM_021625.5(TRPV4):c.922C>T (p.Pro308Ser)
NM_021625.5(TRPV4):c.978T>A (p.His326Gln)
NM_147204.2(TRPV4):c.1152+1990T>C rs886042740

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