ClinVar Miner

List of variants in gene TRPV4 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 206
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.33G>T (p.Gly11=) rs56092423 0.00939
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
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.1744C>T (p.Leu582=) rs35078611 0.00542
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_021625.5(TRPV4):c.1581C>T (p.Thr527=) rs114653066 0.00182
NM_021625.5(TRPV4):c.57C>T (p.Pro19=) rs112408790 0.00161
NM_021625.5(TRPV4):c.28G>C (p.Ala10Pro) rs376436045 0.00141
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=) rs141244183 0.00108
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636 0.00096
NM_021625.5(TRPV4):c.1284G>A (p.Gly428=) rs150773110 0.00093
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=) rs149988106 0.00071
NM_021625.5(TRPV4):c.549G>A (p.Glu183=) rs141908793 0.00058
NM_021625.5(TRPV4):c.1656del (p.Tyr553fs) rs541606391 0.00054
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.1093G>A (p.Val365Met) rs570675468 0.00042
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_021625.5(TRPV4):c.426G>A (p.Pro142=) rs145327152 0.00031
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.402C>A (p.Ser134Arg) rs201241092 0.00025
NM_021625.5(TRPV4):c.1421A>G (p.Asn474Ser) rs150461804 0.00021
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.2209-5C>T rs374184761 0.00019
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=) rs202036871 0.00019
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.956C>T (p.Ser319Leu) rs377518118 0.00016
NM_021625.5(TRPV4):c.1278G>A (p.Thr426=) rs139179261 0.00015
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.1398C>T (p.Phe466=) rs146929022 0.00010
NM_021625.5(TRPV4):c.2514G>A (p.Pro838=) rs576688961 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.2320C>T (p.Arg774Cys) rs145102919 0.00007
NM_021625.5(TRPV4):c.1107C>T (p.Asp369=) rs771626710 0.00006
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021625.5(TRPV4):c.1982G>A (p.Arg661His) rs368448939 0.00006
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=) rs142656819 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.746G>A (p.Arg249His) rs771294425 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_021625.5(TRPV4):c.963C>A (p.Gly321=) rs148534854 0.00006
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter) rs545966662 0.00005
NM_021625.5(TRPV4):c.1885G>A (p.Ala629Thr) rs200838499 0.00005
NM_021625.5(TRPV4):c.2247C>T (p.Pro749=) rs141135321 0.00005
NM_021625.5(TRPV4):c.1062C>T (p.Ala354=) rs115446386 0.00004
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=) rs140040335 0.00004
NM_021625.5(TRPV4):c.1449C>G (p.Val483=) rs1060504550 0.00004
NM_021625.5(TRPV4):c.153G>A (p.Pro51=) rs577306678 0.00004
NM_021625.5(TRPV4):c.1543G>T (p.Val515Phe) rs777901220 0.00004
NM_021625.5(TRPV4):c.1899C>T (p.Val633=) rs753027239 0.00004
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu) rs200199102 0.00004
NM_021625.5(TRPV4):c.2388C>T (p.Asn796=) rs116685089 0.00004
NM_021625.5(TRPV4):c.387-6C>T rs775634013 0.00004
NM_021625.5(TRPV4):c.936G>A (p.Ala312=) rs202084699 0.00004
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=) rs750086412 0.00003
NM_021625.5(TRPV4):c.1104C>T (p.Asn368=) rs768593770 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.2604C>T (p.Asp868=) rs111598467 0.00003
NM_021625.5(TRPV4):c.36C>T (p.Pro12=) rs550200361 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 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.1116G>A (p.Ser372=) rs369811541 0.00002
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615 0.00002
NM_021625.5(TRPV4):c.1566C>G (p.Val522=) rs765724064 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.2508G>A (p.Ser836=) rs201884175 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.616C>T (p.Arg206Cys) rs200497189 0.00002
NM_021625.5(TRPV4):c.646A>G (p.Ile216Val) rs1318320106 0.00002
NM_021625.5(TRPV4):c.651G>A (p.Ala217=) rs371280831 0.00002
NM_021625.5(TRPV4):c.704A>G (p.Tyr235Cys) rs754848195 0.00002
NM_021625.5(TRPV4):c.1064G>A (p.Arg355His) rs764715510 0.00001
NM_021625.5(TRPV4):c.1134C>T (p.Ala378=) rs375468689 0.00001
NM_021625.5(TRPV4):c.1184C>T (p.Thr395Met) rs374197231 0.00001
NM_021625.5(TRPV4):c.1333-5C>T rs761542549 0.00001
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=) rs189872222 0.00001
NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr) rs546287338 0.00001
NM_021625.5(TRPV4):c.1479G>A (p.Pro493=) rs1337838267 0.00001
NM_021625.5(TRPV4):c.1482G>A (p.Leu494=) rs143722984 0.00001
NM_021625.5(TRPV4):c.1528C>T (p.Arg510Trp) rs918220829 0.00001
NM_021625.5(TRPV4):c.15C>T (p.Ser5=) rs751824781 0.00001
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn) rs757630049 0.00001
NM_021625.5(TRPV4):c.166C>T (p.Arg56Cys) rs775092573 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.1857C>T (p.Leu619=) rs781048658 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.2076C>T (p.Pro692=) rs769988861 0.00001
NM_021625.5(TRPV4):c.2088C>T (p.Ile696=) rs367846257 0.00001
NM_021625.5(TRPV4):c.2198G>A (p.Trp733Ter) rs200757159 0.00001
NM_021625.5(TRPV4):c.2226G>A (p.Leu742=) rs769329467 0.00001
NM_021625.5(TRPV4):c.2244C>T (p.Phe748=) rs1340974810 0.00001
NM_021625.5(TRPV4):c.2295C>G (p.Gly765=) rs753038628 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.26G>A (p.Arg9His) rs776163103 0.00001
NM_021625.5(TRPV4):c.300G>A (p.Lys100=) rs370135765 0.00001
NM_021625.5(TRPV4):c.330C>T (p.Tyr110=) rs777176504 0.00001
NM_021625.5(TRPV4):c.331G>A (p.Gly111Ser) rs768721947 0.00001
NM_021625.5(TRPV4):c.395C>T (p.Pro132Leu) rs779371027 0.00001
NM_021625.5(TRPV4):c.535C>T (p.Arg179Cys) rs751647405 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.690C>T (p.Pro230=) rs747822070 0.00001
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys) rs267607146 0.00001
NM_021625.5(TRPV4):c.812G>A (p.Arg271His) rs387907219 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.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_021625.5(TRPV4):c.1039G>C (p.Asp347His) rs1006063188
NM_021625.5(TRPV4):c.1056G>T (p.Lys352Asn) rs972744238
NM_021625.5(TRPV4):c.1058G>T (p.Cys353Phe)
NM_021625.5(TRPV4):c.1060G>C (p.Ala354Pro)
NM_021625.5(TRPV4):c.1064G>T (p.Arg355Leu)
NM_021625.5(TRPV4):c.1066C>T (p.Leu356Phe)
NM_021625.5(TRPV4):c.1128G>A (p.Met376Ile)
NM_021625.5(TRPV4):c.1132G>C (p.Ala378Pro)
NM_021625.5(TRPV4):c.1139C>A (p.Thr380Lys)
NM_021625.5(TRPV4):c.1229C>T (p.Ala410Val)
NM_021625.5(TRPV4):c.1233T>C (p.Tyr411=) rs886042740
NM_021625.5(TRPV4):c.126G>A (p.Gly42=) rs1057523956
NM_021625.5(TRPV4):c.1314del (p.Tyr439fs)
NM_021625.5(TRPV4):c.1337G>T (p.Arg446Leu) rs143502097
NM_021625.5(TRPV4):c.1392C>G (p.Arg464=) rs182609216
NM_021625.5(TRPV4):c.1427T>C (p.Val476Ala)
NM_021625.5(TRPV4):c.1434C>T (p.Tyr478=) rs749421876
NM_021625.5(TRPV4):c.1441G>A (p.Ala481Thr)
NM_021625.5(TRPV4):c.1472A>G (p.Tyr491Cys) rs531738577
NM_021625.5(TRPV4):c.1479G>T (p.Pro493=) rs1337838267
NM_021625.5(TRPV4):c.1515G>A (p.Thr505=) rs1056692999
NM_021625.5(TRPV4):c.1611C>T (p.Cys537=) rs1407714132
NM_021625.5(TRPV4):c.1615G>A (p.Gly539Arg)
NM_021625.5(TRPV4):c.1625C>G (p.Ser542Cys) rs387906902
NM_021625.5(TRPV4):c.171T>C (p.Pro57=) rs886048941
NM_021625.5(TRPV4):c.1766C>T (p.Ala589Val)
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.5(TRPV4):c.179C>T (p.Pro60Leu) rs763266931
NM_021625.5(TRPV4):c.1825-11_1839dup
NM_021625.5(TRPV4):c.1840C>G (p.Leu614Val)
NM_021625.5(TRPV4):c.1919C>T (p.Ala640Val)
NM_021625.5(TRPV4):c.1970A>G (p.Tyr657Cys)
NM_021625.5(TRPV4):c.1999A>G (p.Ser667Gly)
NM_021625.5(TRPV4):c.2012T>C (p.Leu671Pro)
NM_021625.5(TRPV4):c.2057dup (p.Ser687fs)
NM_021625.5(TRPV4):c.210G>C (p.Lys70Asn)
NM_021625.5(TRPV4):c.2151C>A (p.Leu717=) rs1555205372
NM_021625.5(TRPV4):c.2204T>G (p.Leu735Arg) rs1555205335
NM_021625.5(TRPV4):c.2209-4G>A
NM_021625.5(TRPV4):c.2209-9_2209-6del
NM_021625.5(TRPV4):c.223T>C (p.Phe75Leu)
NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_021625.5(TRPV4):c.2270G>T (p.Arg757Leu)
NM_021625.5(TRPV4):c.2304G>A (p.Ser768=) rs138986228
NM_021625.5(TRPV4):c.2378G>A (p.Gly793Asp) rs1451788224
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.5(TRPV4):c.2426G>A (p.Gly809Asp) rs2136417276
NM_021625.5(TRPV4):c.2456G>A (p.Arg819Lys) rs1565857540
NM_021625.5(TRPV4):c.2485G>A (p.Val829Met)
NM_021625.5(TRPV4):c.2485G>C (p.Val829Leu)
NM_021625.5(TRPV4):c.2572C>T (p.Gln858Ter)
NM_021625.5(TRPV4):c.2584del (p.Arg862fs) rs746597270
NM_021625.5(TRPV4):c.336C>A (p.Thr112=) rs969086736
NM_021625.5(TRPV4):c.379A>T (p.Ile127Phe) rs1367833016
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.5(TRPV4):c.408A>C (p.Lys136Asn)
NM_021625.5(TRPV4):c.478del (p.Arg160fs) rs1064796238
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.5(TRPV4):c.59G>C (p.Gly20Ala)
NM_021625.5(TRPV4):c.608G>A (p.Ser203Asn)
NM_021625.5(TRPV4):c.673del (p.Glu225fs) rs1191019525
NM_021625.5(TRPV4):c.706T>C (p.Tyr236His)
NM_021625.5(TRPV4):c.728A>G (p.His243Arg)
NM_021625.5(TRPV4):c.751A>C (p.Lys251Gln)
NM_021625.5(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021625.5(TRPV4):c.760G>C (p.Val254Leu) rs143548402
NM_021625.5(TRPV4):c.792C>A (p.Val264=) rs867185488
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.83G>A (p.Gly28Glu)
NM_021625.5(TRPV4):c.842A>C (p.Tyr281Ser) rs1555208063
NM_021625.5(TRPV4):c.871C>T (p.Leu291=) rs1057521414
NM_021625.5(TRPV4):c.903C>G (p.Val301=) rs748103823
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.5(TRPV4):c.957G>A (p.Ser319=) rs116698155

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