ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease axonal type 2C by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 451
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=) rs142749412 0.00016
NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu) rs201927283 0.00016
NM_021625.5(TRPV4):c.661G>A (p.Gly221Ser) rs373539744 0.00016
NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu) rs377518118 0.00016
NM_021625.5(TRPV4):c.2609C>T (p.Pro870Leu) rs756526036 0.00009
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met) rs140535889 0.00008
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.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021625.5(TRPV4):c.1491+5G>C rs375360273 0.00006
NM_021625.5(TRPV4):c.1982G>A (p.Arg661His) rs368448939 0.00006
NM_021625.5(TRPV4):c.226C>T (p.Arg76Cys) rs777647151 0.00006
NM_021625.5(TRPV4):c.25C>T (p.Arg9Cys) rs758741868 0.00006
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764 0.00006
NM_021625.5(TRPV4):c.709C>T (p.Arg237Ter) rs746368269 0.00006
NM_021625.5(TRPV4):c.745C>T (p.Arg249Cys) rs148041016 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.1063C>T (p.Arg355Cys) rs143604694 0.00005
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter) rs545966662 0.00005
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys) rs199624080 0.00005
NM_021625.5(TRPV4):c.2270G>A (p.Arg757His) rs143835743 0.00005
NM_021625.5(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023 0.00005
NM_021625.5(TRPV4):c.1039G>T (p.Asp347Tyr) rs1006063188 0.00004
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.190C>T (p.Arg64Ter) rs372452565 0.00004
NM_021625.5(TRPV4):c.656G>A (p.Arg219His) rs767331924 0.00004
NM_021625.5(TRPV4):c.711A>G (p.Arg237=) rs927188562 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.1514C>T (p.Thr505Met) rs375574238 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.2540G>T (p.Ser847Ile) rs145184680 0.00003
NM_021625.5(TRPV4):c.2584C>T (p.Arg862Cys) rs149267166 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.742C>T (p.Arg248Cys) rs370289434 0.00003
NM_021625.5(TRPV4):c.1108G>A (p.Gly370Ser) rs146053143 0.00002
NM_021625.5(TRPV4):c.1158T>G (p.Phe386Leu) rs760428569 0.00002
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.1199G>A (p.Arg400Gln) rs926925253 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.1465G>A (p.Ala489Thr) rs758280554 0.00002
NM_021625.5(TRPV4):c.1549A>G (p.Thr517Ala) rs1085307827 0.00002
NM_021625.5(TRPV4):c.183C>T (p.Gly61=) rs773744592 0.00002
NM_021625.5(TRPV4):c.191G>A (p.Arg64Gln) rs1199457372 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.2432C>T (p.Ser811Leu) rs756076344 0.00002
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys) rs372583866 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.479G>A (p.Arg160Gln) rs139300843 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021625.5(TRPV4):c.616C>T (p.Arg206Cys) rs200497189 0.00002
NM_021625.5(TRPV4):c.646A>G (p.Ile216Val) rs1318320106 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.1007G>A (p.Arg336His) rs768028153 0.00001
NM_021625.5(TRPV4):c.1064G>A (p.Arg355His) rs764715510 0.00001
NM_021625.5(TRPV4):c.1073C>T (p.Pro358Leu) rs752782460 0.00001
NM_021625.5(TRPV4):c.1075G>A (p.Asp359Asn) rs774779620 0.00001
NM_021625.5(TRPV4):c.1084C>A (p.Leu362Met) rs1238768782 0.00001
NM_021625.5(TRPV4):c.1115C>T (p.Ser372Leu) rs1479394096 0.00001
NM_021625.5(TRPV4):c.1148T>C (p.Ile383Thr) rs759729089 0.00001
NM_021625.5(TRPV4):c.1162C>T (p.His388Tyr) rs1201172376 0.00001
NM_021625.5(TRPV4):c.1184C>T (p.Thr395Met) rs374197231 0.00001
NM_021625.5(TRPV4):c.1277C>T (p.Thr426Met) rs757522459 0.00001
NM_021625.5(TRPV4):c.1336C>T (p.Arg446Cys) rs145900289 0.00001
NM_021625.5(TRPV4):c.1342G>A (p.Glu448Lys) rs373103155 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr) rs546287338 0.00001
NM_021625.5(TRPV4):c.1469A>G (p.Tyr490Cys) rs745759761 0.00001
NM_021625.5(TRPV4):c.1478C>T (p.Pro493Leu) rs757284253 0.00001
NM_021625.5(TRPV4):c.1493C>T (p.Pro498Leu) rs1051494811 0.00001
NM_021625.5(TRPV4):c.1507C>T (p.Arg503Cys) rs750992130 0.00001
NM_021625.5(TRPV4):c.1508G>A (p.Arg503His) rs765199576 0.00001
NM_021625.5(TRPV4):c.1510A>G (p.Thr504Ala) rs762000967 0.00001
NM_021625.5(TRPV4):c.1522T>C (p.Tyr508His) rs1167973138 0.00001
NM_021625.5(TRPV4):c.1528C>T (p.Arg510Trp) rs918220829 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.159T>A (p.Asp53Glu) rs765021989 0.00001
NM_021625.5(TRPV4):c.1600A>G (p.Met534Val) rs761079651 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.166C>T (p.Arg56Cys) rs775092573 0.00001
NM_021625.5(TRPV4):c.16G>A (p.Glu6Lys) rs769769057 0.00001
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344 0.00001
NM_021625.5(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156 0.00001
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) rs770149544 0.00001
NM_021625.5(TRPV4):c.1909A>T (p.Asn637Tyr) rs1417825919 0.00001
NM_021625.5(TRPV4):c.19G>T (p.Gly7Cys) rs1258802633 0.00001
NM_021625.5(TRPV4):c.2035G>A (p.Gly679Ser) rs1413159026 0.00001
NM_021625.5(TRPV4):c.2038A>G (p.Met680Val) rs114408421 0.00001
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp) rs766420746 0.00001
NM_021625.5(TRPV4):c.2077G>A (p.Val693Met) rs761952727 0.00001
NM_021625.5(TRPV4):c.209A>T (p.Lys70Met) rs1437603973 0.00001
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp) rs1213728059 0.00001
NM_021625.5(TRPV4):c.214C>T (p.Gln72Ter) rs866577166 0.00001
NM_021625.5(TRPV4):c.2162C>G (p.Thr721Arg) rs1423138633 0.00001
NM_021625.5(TRPV4):c.2167G>A (p.Gly723Ser) rs1889833666 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.2236C>G (p.Arg746Gly) rs375189134 0.00001
NM_021625.5(TRPV4):c.2267T>A (p.Phe756Tyr) rs779238510 0.00001
NM_021625.5(TRPV4):c.227G>T (p.Arg76Leu) rs1435404361 0.00001
NM_021625.5(TRPV4):c.2336+1G>A rs771778984 0.00001
NM_021625.5(TRPV4):c.2387A>G (p.Asn796Ser) rs1188535536 0.00001
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168 0.00001
NM_021625.5(TRPV4):c.2440G>T (p.Val814Leu) rs202075458 0.00001
NM_021625.5(TRPV4):c.2446C>T (p.Arg816Cys) rs748742151 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.2459A>G (p.Asp820Gly) rs754158623 0.00001
NM_021625.5(TRPV4):c.2499C>A (p.Asn833Lys) rs147045782 0.00001
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu) rs768620169 0.00001
NM_021625.5(TRPV4):c.2555G>A (p.Arg852His) rs1276147923 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.26G>A (p.Arg9His) rs776163103 0.00001
NM_021625.5(TRPV4):c.331G>A (p.Gly111Ser) rs768721947 0.00001
NM_021625.5(TRPV4):c.340C>T (p.Arg114Cys) rs747135844 0.00001
NM_021625.5(TRPV4):c.341G>A (p.Arg114His) rs780302795 0.00001
NM_021625.5(TRPV4):c.345C>G (p.His115Gln) rs1420465373 0.00001
NM_021625.5(TRPV4):c.384A>G (p.Ile128Met) rs1891728218 0.00001
NM_021625.5(TRPV4):c.395C>T (p.Pro132Leu) rs779371027 0.00001
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) rs1193945019 0.00001
NM_021625.5(TRPV4):c.442G>A (p.Val148Ile) rs998631604 0.00001
NM_021625.5(TRPV4):c.472G>A (p.Val158Met) rs746905653 0.00001
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg) rs756559560 0.00001
NM_021625.5(TRPV4):c.50A>G (p.Glu17Gly) rs989621170 0.00001
NM_021625.5(TRPV4):c.536G>A (p.Arg179His) rs1362478789 0.00001
NM_021625.5(TRPV4):c.556C>T (p.Arg186Ter) rs773622769 0.00001
NM_021625.5(TRPV4):c.58G>A (p.Gly20Arg) rs764970185 0.00001
NM_021625.5(TRPV4):c.593C>G (p.Ala198Gly) rs775317084 0.00001
NM_021625.5(TRPV4):c.622G>A (p.Asp208Asn) rs769445973 0.00001
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val) rs548909101 0.00001
NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu) rs373980330 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.737T>C (p.Ile246Thr) rs1200887655 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.877G>A (p.Ala293Thr) rs1054889070 0.00001
NM_021625.5(TRPV4):c.904A>T (p.Asn302Tyr) rs780551685 0.00001
NM_021625.5(TRPV4):c.915G>A (p.Thr305=) rs1565870990 0.00001
NM_021625.5(TRPV4):c.922C>T (p.Pro308Ser) rs1257302371 0.00001
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val) rs751139506 0.00001
NM_021625.5(TRPV4):c.940A>G (p.Met314Val) rs151101009 0.00001
NC_000012.11:g.(?_110221426)_(110224662_?)dup
NC_000012.11:g.(?_110252196)_(110252601_?)del
NM_021625.5(TRPV4):c.1006C>T (p.Arg336Cys) rs781229110
NM_021625.5(TRPV4):c.1028C>T (p.Thr343Ile)
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn) rs1006063188
NM_021625.5(TRPV4):c.1055A>G (p.Lys352Arg)
NM_021625.5(TRPV4):c.1066C>T (p.Leu356Phe)
NM_021625.5(TRPV4):c.1076_1093del (p.Asp359_Ala364del) rs1592838554
NM_021625.5(TRPV4):c.1087G>C (p.Glu363Gln)
NM_021625.5(TRPV4):c.1087_1088delinsTT (p.Glu363Leu) rs1890576440
NM_021625.5(TRPV4):c.1093G>C (p.Val365Leu)
NM_021625.5(TRPV4):c.1105G>A (p.Asp369Asn)
NM_021625.5(TRPV4):c.1124T>C (p.Met375Thr)
NM_021625.5(TRPV4):c.1130C>T (p.Ala377Val)
NM_021625.5(TRPV4):c.1130_1152+16del rs2136516895
NM_021625.5(TRPV4):c.1133C>A (p.Ala378Asp)
NM_021625.5(TRPV4):c.1136A>G (p.Lys379Arg) rs1890568784
NM_021625.5(TRPV4):c.113A>G (p.Asn38Ser)
NM_021625.5(TRPV4):c.1159C>G (p.Gln387Glu) rs1890422889
NM_021625.5(TRPV4):c.1165A>G (p.Ile389Val)
NM_021625.5(TRPV4):c.1172G>A (p.Arg391Gln)
NM_021625.5(TRPV4):c.1175G>C (p.Arg392Pro) rs770364304
NM_021625.5(TRPV4):c.1205T>C (p.Leu402Pro) rs1890419368
NM_021625.5(TRPV4):c.1233T>A (p.Tyr411Ter)
NM_021625.5(TRPV4):c.124G>T (p.Gly42Trp) rs1891750610
NM_021625.5(TRPV4):c.125G>A (p.Gly42Glu)
NM_021625.5(TRPV4):c.125G>T (p.Gly42Val)
NM_021625.5(TRPV4):c.1265C>A (p.Ser422Tyr) rs1890416175
NM_021625.5(TRPV4):c.1273G>T (p.Asp425Tyr) rs1890415214
NM_021625.5(TRPV4):c.1282G>A (p.Gly428Arg)
NM_021625.5(TRPV4):c.1283G>A (p.Gly428Glu) rs1890414210
NM_021625.5(TRPV4):c.1291G>A (p.Ala431Thr)
NM_021625.5(TRPV4):c.1292C>T (p.Ala431Val) rs2136502657
NM_021625.5(TRPV4):c.1309C>G (p.Leu437Val) rs1890412020
NM_021625.5(TRPV4):c.1314del (p.Tyr439fs)
NM_021625.5(TRPV4):c.1315T>A (p.Tyr439Asn) rs762416745
NM_021625.5(TRPV4):c.1316A>T (p.Tyr439Phe)
NM_021625.5(TRPV4):c.1332+1G>A
NM_021625.5(TRPV4):c.1333-3T>C
NM_021625.5(TRPV4):c.1333-4_1333-3del
NM_021625.5(TRPV4):c.1333A>G (p.Asn445Asp)
NM_021625.5(TRPV4):c.1336C>G (p.Arg446Gly)
NM_021625.5(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.5(TRPV4):c.1337G>C (p.Arg446Pro)
NM_021625.5(TRPV4):c.1345A>C (p.Met449Leu)
NM_021625.5(TRPV4):c.1349T>C (p.Leu450Pro)
NM_021625.5(TRPV4):c.1373T>C (p.Leu458Pro)
NM_021625.5(TRPV4):c.1378C>G (p.Arg460Gly)
NM_021625.5(TRPV4):c.1391G>A (p.Arg464His) rs758206734
NM_021625.5(TRPV4):c.1391G>T (p.Arg464Leu)
NM_021625.5(TRPV4):c.1393A>G (p.Lys465Glu) rs2136484635
NM_021625.5(TRPV4):c.1403C>T (p.Ala468Val)
NM_021625.5(TRPV4):c.1421A>T (p.Asn474Ile) rs150461804
NM_021625.5(TRPV4):c.1424T>C (p.Val475Ala)
NM_021625.5(TRPV4):c.1431del (p.Tyr478fs)
NM_021625.5(TRPV4):c.1439G>T (p.Cys480Phe) rs943346163
NM_021625.5(TRPV4):c.1445T>C (p.Met482Thr) rs1565866454
NM_021625.5(TRPV4):c.1450A>G (p.Ile484Val) rs1555206591
NM_021625.5(TRPV4):c.1457C>A (p.Thr486Asn) rs2136483803
NM_021625.5(TRPV4):c.1463C>T (p.Thr488Ile)
NM_021625.5(TRPV4):c.1467del (p.Tyr490fs)
NM_021625.5(TRPV4):c.1473C>A (p.Tyr491Ter)
NM_021625.5(TRPV4):c.1491+5G>A rs375360273
NM_021625.5(TRPV4):c.1491A>C (p.Thr497=)
NM_021625.5(TRPV4):c.1492-1_1494del rs2136480490
NM_021625.5(TRPV4):c.14G>A (p.Ser5Asn)
NM_021625.5(TRPV4):c.1500C>A (p.Tyr500Ter)
NM_021625.5(TRPV4):c.1505A>T (p.Tyr502Phe) rs1592830087
NM_021625.5(TRPV4):c.1513A>G (p.Thr505Ala)
NM_021625.5(TRPV4):c.1520A>G (p.Asp507Gly)
NM_021625.5(TRPV4):c.1527dup (p.Arg510fs)
NM_021625.5(TRPV4):c.1552C>T (p.Leu518Phe) rs2136479469
NM_021625.5(TRPV4):c.1559C>A (p.Thr520Asn) rs2136479390
NM_021625.5(TRPV4):c.155C>T (p.Ala52Val)
NM_021625.5(TRPV4):c.1570TTC[2] (p.Phe526del) rs1393630996
NM_021625.5(TRPV4):c.1584+1G>C rs775922797
NM_021625.5(TRPV4):c.1584+5G>C
NM_021625.5(TRPV4):c.1590A>C (p.Lys530Asn)
NM_021625.5(TRPV4):c.1601T>A (p.Met534Lys) rs775011025
NM_021625.5(TRPV4):c.1616G>T (p.Gly539Val)
NM_021625.5(TRPV4):c.161C>G (p.Ala54Gly) rs753813565
NM_021625.5(TRPV4):c.1627C>G (p.Leu543Val)
NM_021625.5(TRPV4):c.1627C>T (p.Leu543Phe) rs779325064
NM_021625.5(TRPV4):c.1636G>A (p.Asp546Asn)
NM_021625.5(TRPV4):c.1639G>T (p.Gly547Cys)
NM_021625.5(TRPV4):c.1642T>C (p.Ser548Pro) rs2136474950
NM_021625.5(TRPV4):c.1658+1G>A
NM_021625.5(TRPV4):c.1659-1G>A
NM_021625.5(TRPV4):c.1675_1698del (p.Leu559_Leu566del) rs1890129676
NM_021625.5(TRPV4):c.1678del (p.Leu559_Val560insTer)
NM_021625.5(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.5(TRPV4):c.167G>T (p.Arg56Leu) rs767169716
NM_021625.5(TRPV4):c.1696C>T (p.Leu566Phe) rs144583941
NM_021625.5(TRPV4):c.1706C>G (p.Ala569Gly) rs1565864489
NM_021625.5(TRPV4):c.1714G>A (p.Glu572Lys) rs1312427314
NM_021625.5(TRPV4):c.1714G>C (p.Glu572Gln) rs1312427314
NM_021625.5(TRPV4):c.1741G>A (p.Ala581Thr)
NM_021625.5(TRPV4):c.1778C>G (p.Thr593Ser)
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs) rs1252509184
NM_021625.5(TRPV4):c.1784G>T (p.Gly595Val) rs2136468285
NM_021625.5(TRPV4):c.1796C>G (p.Thr599Arg) rs769225216
NM_021625.5(TRPV4):c.1824+1G>A rs758491211
NM_021625.5(TRPV4):c.1825-10G>A
NM_021625.5(TRPV4):c.1825A>C (p.Ile609Leu) rs2136466571
NM_021625.5(TRPV4):c.1828C>T (p.Leu610Phe) rs2136466528
NM_021625.5(TRPV4):c.1867del (p.Leu623fs) rs1890102629
NM_021625.5(TRPV4):c.1874T>C (p.Met625Thr)
NM_021625.5(TRPV4):c.1878C>G (p.Ile626Met)
NM_021625.5(TRPV4):c.1879G>A (p.Gly627Ser) rs998369017
NM_021625.5(TRPV4):c.1907T>C (p.Leu636Pro)
NM_021625.5(TRPV4):c.1919C>T (p.Ala640Val)
NM_021625.5(TRPV4):c.1924A>G (p.Met642Val)
NM_021625.5(TRPV4):c.1924A>T (p.Met642Leu) rs1411091303
NM_021625.5(TRPV4):c.1925T>A (p.Met642Lys) rs1368161455
NM_021625.5(TRPV4):c.1949C>A (p.Thr650Asn) rs1249629161
NM_021625.5(TRPV4):c.1952A>C (p.Asn651Thr)
NM_021625.5(TRPV4):c.1957A>C (p.Thr653Pro) rs769927678
NM_021625.5(TRPV4):c.1957A>G (p.Thr653Ala) rs769927678
NM_021625.5(TRPV4):c.1963C>G (p.Pro655Ala)
NM_021625.5(TRPV4):c.1971C>A (p.Tyr657Ter) rs1951172791
NM_021625.5(TRPV4):c.1972C>A (p.Pro658Thr)
NM_021625.5(TRPV4):c.1987A>G (p.Ser663Gly) rs1889846400
NM_021625.5(TRPV4):c.1989C>G (p.Ser663Arg) rs778560334
NM_021625.5(TRPV4):c.1993A>G (p.Thr665Ala)
NM_021625.5(TRPV4):c.2000G>A (p.Ser667Asn) rs756867557
NM_021625.5(TRPV4):c.2000G>C (p.Ser667Thr)
NM_021625.5(TRPV4):c.203G>A (p.Arg68His) rs747215384
NM_021625.5(TRPV4):c.203G>T (p.Arg68Leu) rs747215384
NM_021625.5(TRPV4):c.2044G>A (p.Asp682Asn) rs968378720
NM_021625.5(TRPV4):c.2045A>G (p.Asp682Gly)
NM_021625.5(TRPV4):c.2117C>A (p.Thr706Asn) rs1889838365
NM_021625.5(TRPV4):c.213C>G (p.Phe71Leu)
NM_021625.5(TRPV4):c.2184G>C (p.Glu728Asp) rs2136440447
NM_021625.5(TRPV4):c.2187C>A (p.Ser729Arg) rs1889832143
NM_021625.5(TRPV4):c.2192A>G (p.His731Arg) rs1463500359
NM_021625.5(TRPV4):c.2209-13_2209-5dup
NM_021625.5(TRPV4):c.2209T>C (p.Trp737Arg)
NM_021625.5(TRPV4):c.2209T>G (p.Trp737Gly)
NM_021625.5(TRPV4):c.220G>A (p.Ala74Thr)
NM_021625.5(TRPV4):c.2211G>C (p.Trp737Cys) rs1035249096
NM_021625.5(TRPV4):c.2213C>T (p.Ala738Val)
NM_021625.5(TRPV4):c.223T>C (p.Phe75Leu)
NM_021625.5(TRPV4):c.2240C>T (p.Ser747Phe)
NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_021625.5(TRPV4):c.2251T>C (p.Phe751Leu) rs1889714537
NM_021625.5(TRPV4):c.2264C>T (p.Ala755Val) rs746363121
NM_021625.5(TRPV4):c.2271del (p.Ser758fs) rs1889712036
NM_021625.5(TRPV4):c.2273C>G (p.Ser758Cys) rs778014423
NM_021625.5(TRPV4):c.227G>A (p.Arg76His)
NM_021625.5(TRPV4):c.2290G>A (p.Val764Met) rs750416252
NM_021625.5(TRPV4):c.2290G>T (p.Val764Leu) rs750416252
NM_021625.5(TRPV4):c.2294G>A (p.Gly765Asp)
NM_021625.5(TRPV4):c.229A>G (p.Lys77Glu) rs1565883324
NM_021625.5(TRPV4):c.2303C>T (p.Ser768Leu)
NM_021625.5(TRPV4):c.2308G>A (p.Gly770Ser)
NM_021625.5(TRPV4):c.2311A>C (p.Thr771Pro)
NM_021625.5(TRPV4):c.2315C>T (p.Pro772Leu) rs1889708727
NM_021625.5(TRPV4):c.2321G>A (p.Arg774His)
NM_021625.5(TRPV4):c.2334C>T (p.Phe778=)
NM_021625.5(TRPV4):c.2337-13T>A
NM_021625.5(TRPV4):c.2338G>A (p.Val780Met)
NM_021625.5(TRPV4):c.2338G>T (p.Val780Leu)
NM_021625.5(TRPV4):c.2354G>C (p.Trp785Ser)
NM_021625.5(TRPV4):c.2378G>A (p.Gly793Asp) rs1451788224
NM_021625.5(TRPV4):c.238C>T (p.Pro80Ser)
NM_021625.5(TRPV4):c.2395C>A (p.Pro799Thr) rs267607147
NM_021625.5(TRPV4):c.2396C>A (p.Pro799Gln)
NM_021625.5(TRPV4):c.239C>T (p.Pro80Leu) rs2136660243
NM_021625.5(TRPV4):c.2426G>A (p.Gly809Asp) rs2136417276
NM_021625.5(TRPV4):c.242A>G (p.Asn81Ser) rs2136660218
NM_021625.5(TRPV4):c.243C>G (p.Asn81Lys)
NM_021625.5(TRPV4):c.2446C>G (p.Arg816Gly) rs748742151
NM_021625.5(TRPV4):c.2456G>A (p.Arg819Lys) rs1565857540
NM_021625.5(TRPV4):c.2457G>A (p.Arg819=)
NM_021625.5(TRPV4):c.2458+4A>C rs2136416943
NM_021625.5(TRPV4):c.245C>G (p.Pro82Arg) rs767079858
NM_021625.5(TRPV4):c.2461C>T (p.Arg821Cys)
NM_021625.5(TRPV4):c.2470T>A (p.Ser824Thr)
NM_021625.5(TRPV4):c.2473G>C (p.Val825Leu) rs1889497846
NM_021625.5(TRPV4):c.247A>G (p.Ile83Val)
NM_021625.5(TRPV4):c.2482C>A (p.Arg828Ser) rs1467984181
NM_021625.5(TRPV4):c.2482C>T (p.Arg828Cys)
NM_021625.5(TRPV4):c.2485G>C (p.Val829Leu)
NM_021625.5(TRPV4):c.2489T>C (p.Val830Ala) rs1565856891
NM_021625.5(TRPV4):c.2494C>A (p.Leu832Met)
NM_021625.5(TRPV4):c.2495T>G (p.Leu832Arg) rs1565856842
NM_021625.5(TRPV4):c.250G>A (p.Asp84Asn) rs908406423
NM_021625.5(TRPV4):c.2512C>T (p.Pro838Ser)
NM_021625.5(TRPV4):c.2513_2533del (p.Pro838_Pro844del)
NM_021625.5(TRPV4):c.2521G>A (p.Val841Met) rs1592812166
NM_021625.5(TRPV4):c.2530C>A (p.Pro844Thr) rs2136412583
NM_021625.5(TRPV4):c.2550C>A (p.Asn850Lys) rs571407723
NM_021625.5(TRPV4):c.2557_2586del (p.Cys853_Arg862del) rs1555204381
NM_021625.5(TRPV4):c.2560G>C (p.Asp854His) rs368963822
NM_021625.5(TRPV4):c.2564G>C (p.Gly855Ala)
NM_021625.5(TRPV4):c.2570A>G (p.Gln857Arg) rs1262126429
NM_021625.5(TRPV4):c.2575G>T (p.Gly859Cys)
NM_021625.5(TRPV4):c.2584del (p.Arg862fs) rs746597270
NM_021625.5(TRPV4):c.2592G>T (p.Trp864Cys) rs966904634
NM_021625.5(TRPV4):c.2595del (p.Thr866fs)
NM_021625.5(TRPV4):c.25C>G (p.Arg9Gly)
NM_021625.5(TRPV4):c.2605G>T (p.Ala869Ser) rs138396764
NM_021625.5(TRPV4):c.283G>A (p.Val95Met) rs1891735247
NM_021625.5(TRPV4):c.286G>T (p.Val96Leu)
NM_021625.5(TRPV4):c.28G>A (p.Ala10Thr)
NM_021625.5(TRPV4):c.313G>A (p.Asp105Asn)
NM_021625.5(TRPV4):c.313G>T (p.Asp105Tyr) rs2136659447
NM_021625.5(TRPV4):c.326A>G (p.Asp109Gly) rs1131691532
NM_021625.5(TRPV4):c.34C>T (p.Pro12Ser) rs1416476726
NM_021625.5(TRPV4):c.352dup (p.Ser118fs)
NM_021625.5(TRPV4):c.357CAA[1] (p.Asn120del)
NM_021625.5(TRPV4):c.371G>A (p.Arg124Lys)
NM_021625.5(TRPV4):c.373A>G (p.Lys125Glu) rs1421114267
NM_021625.5(TRPV4):c.374AGA[1] (p.Lys126del)
NM_021625.5(TRPV4):c.379A>T (p.Ile127Phe) rs1367833016
NM_021625.5(TRPV4):c.37G>A (p.Gly13Arg) rs763302555
NM_021625.5(TRPV4):c.37G>C (p.Gly13Arg) rs763302555
NM_021625.5(TRPV4):c.389A>T (p.Lys130Met) rs1891283509
NM_021625.5(TRPV4):c.413C>A (p.Pro138His)
NM_021625.5(TRPV4):c.41A>T (p.Glu14Val)
NM_021625.5(TRPV4):c.421C>G (p.Gln141Glu)
NM_021625.5(TRPV4):c.427C>A (p.Pro143Thr) rs201642486
NM_021625.5(TRPV4):c.427C>T (p.Pro143Ser) rs201642486
NM_021625.5(TRPV4):c.439A>T (p.Lys147Ter) rs1032750471
NM_021625.5(TRPV4):c.43G>A (p.Val15Met)
NM_021625.5(TRPV4):c.446T>A (p.Phe149Tyr)
NM_021625.5(TRPV4):c.449A>T (p.Asn150Ile) rs1376333910
NM_021625.5(TRPV4):c.451C>T (p.Arg151Trp)
NM_021625.5(TRPV4):c.452G>A (p.Arg151Gln)
NM_021625.5(TRPV4):c.478del (p.Arg160fs) rs1064796238
NM_021625.5(TRPV4):c.500A>T (p.Asp167Val)
NM_021625.5(TRPV4):c.508C>T (p.Leu170Phe) rs2136607765
NM_021625.5(TRPV4):c.511C>T (p.Pro171Ser) rs2136607717
NM_021625.5(TRPV4):c.512C>T (p.Pro171Leu)
NM_021625.5(TRPV4):c.524C>A (p.Thr175Asn)
NM_021625.5(TRPV4):c.547G>A (p.Glu183Lys) rs387906324
NM_021625.5(TRPV4):c.548A>T (p.Glu183Val) rs2136607376
NM_021625.5(TRPV4):c.573dup (p.Lys192fs) rs1890915679
NM_021625.5(TRPV4):c.581G>A (p.Cys194Tyr) rs1890914888
NM_021625.5(TRPV4):c.590A>G (p.Lys197Arg) rs387906903
NM_021625.5(TRPV4):c.592G>A (p.Ala198Thr) rs761966856
NM_021625.5(TRPV4):c.5C>T (p.Ala2Val)
NM_021625.5(TRPV4):c.602A>G (p.Asn201Ser) rs1555208698
NM_021625.5(TRPV4):c.604C>G (p.Leu202Val) rs1890913335
NM_021625.5(TRPV4):c.617G>A (p.Arg206His) rs373108373
NM_021625.5(TRPV4):c.617G>T (p.Arg206Leu) rs373108373
NM_021625.5(TRPV4):c.61G>A (p.Asp21Asn)
NM_021625.5(TRPV4):c.621C>G (p.Asn207Lys)
NM_021625.5(TRPV4):c.634G>A (p.Val212Met)
NM_021625.5(TRPV4):c.648C>G (p.Ile216Met)
NM_021625.5(TRPV4):c.649G>A (p.Ala217Thr) rs187864727
NM_021625.5(TRPV4):c.662G>A (p.Gly221Asp)
NM_021625.5(TRPV4):c.670_671delinsCA (p.Arg224Gln) rs1555208643
NM_021625.5(TRPV4):c.673del (p.Glu225fs) rs1191019525
NM_021625.5(TRPV4):c.689C>T (p.Pro230Leu) rs1890901106
NM_021625.5(TRPV4):c.701T>C (p.Ile234Thr) rs1555208627
NM_021625.5(TRPV4):c.706T>C (p.Tyr236His)
NM_021625.5(TRPV4):c.713-2dup rs760776284
NM_021625.5(TRPV4):c.713-7C>G rs1890730627
NM_021625.5(TRPV4):c.718A>T (p.Thr240Ser)
NM_021625.5(TRPV4):c.719C>T (p.Thr240Ile) rs750340562
NM_021625.5(TRPV4):c.733G>A (p.Ala245Thr) rs761829753
NM_021625.5(TRPV4):c.733G>T (p.Ala245Ser)
NM_021625.5(TRPV4):c.740_741del (p.Glu247fs)
NM_021625.5(TRPV4):c.749G>A (p.Cys250Tyr) rs937032628
NM_021625.5(TRPV4):c.751A>C (p.Lys251Gln)
NM_021625.5(TRPV4):c.752A>G (p.Lys251Arg) rs1890725320
NM_021625.5(TRPV4):c.757T>C (p.Tyr253His) rs973315587
NM_021625.5(TRPV4):c.761_763del (p.Val254del) rs1890724382
NM_021625.5(TRPV4):c.762G>A (p.Val254=) rs2136537855
NM_021625.5(TRPV4):c.781G>A (p.Gly261Arg)
NM_021625.5(TRPV4):c.789_790inv (p.Val264Ile)
NM_021625.5(TRPV4):c.79G>A (p.Gly27Ser)
NM_021625.5(TRPV4):c.820C>T (p.Gln274Ter) rs1592842140
NM_021625.5(TRPV4):c.827A>C (p.Lys276Thr) rs1592842115
NM_021625.5(TRPV4):c.834G>T (p.Glu278Asp) rs529115496
NM_021625.5(TRPV4):c.842A>C (p.Tyr281Ser) rs1555208063
NM_021625.5(TRPV4):c.845dup (p.Tyr283fs)
NM_021625.5(TRPV4):c.872T>C (p.Leu291Pro)
NM_021625.5(TRPV4):c.88G>A (p.Ala30Thr)
NM_021625.5(TRPV4):c.895dup (p.His299fs)
NM_021625.5(TRPV4):c.8A>G (p.Asp3Gly)
NM_021625.5(TRPV4):c.923C>T (p.Pro308Leu)
NM_021625.5(TRPV4):c.925C>T (p.His309Tyr) rs1184985507
NM_021625.5(TRPV4):c.928A>G (p.Lys310Glu)
NM_021625.5(TRPV4):c.944G>A (p.Arg315Gln) rs1064795696
NM_021625.5(TRPV4):c.949del (p.Gln317fs)
NM_021625.5(TRPV4):c.962G>T (p.Gly321Val)
NM_021625.5(TRPV4):c.978T>A (p.His326Gln) rs1890587000
NM_021625.5(TRPV4):c.980C>T (p.Ala327Val) rs1179420073
NM_021625.5(TRPV4):c.985G>A (p.Val329Met) rs2136519623
NM_021625.5(TRPV4):c.997G>T (p.Asp333Tyr) rs2136519490

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