ClinVar Miner

List of variants in gene TRPV4 studied for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 122
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.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
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.1824+4C>T rs147259744 0.00225
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.1585-18C>T rs201974634 0.00148
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.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.1539C>T (p.Gly513=) rs141295418 0.00043
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.1464C>T (p.Thr488=) rs146841400 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_021625.5(TRPV4):c.1584+12G>T rs375908611 0.00022
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547 0.00020
NM_021625.5(TRPV4):c.1658+15C>T rs200083069 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.732C>T (p.Ile244=) rs142647385 0.00014
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe) rs202066574 0.00013
NM_021625.5(TRPV4):c.1404C>T (p.Ala468=) rs138301077 0.00011
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919 0.00007
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=) rs546957932 0.00007
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.1846C>T (p.Arg616Ter) rs545966662 0.00005
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys) rs199624080 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.1492-17C>T rs533510842 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.936G>A (p.Ala312=) rs202084699 0.00004
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=) rs757493897 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.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_021625.5(TRPV4):c.1824+5G>A rs755945349 0.00002
NM_021625.5(TRPV4):c.183C>T (p.Gly61=) rs773744592 0.00002
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys) rs372583866 0.00002
NM_021625.5(TRPV4):c.2610G>A (p.Pro870=) rs548680957 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021625.5(TRPV4):c.834G>A (p.Glu278=) rs529115496 0.00002
NM_021625.5(TRPV4):c.-16C>T rs762801533 0.00001
NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp) rs759501013 0.00001
NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr) rs546287338 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.1824+14G>A rs1019790413 0.00001
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) rs770149544 0.00001
NM_021625.5(TRPV4):c.1977G>A (p.Ser659=) rs1889847260 0.00001
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp) rs766420746 0.00001
NM_021625.5(TRPV4):c.2092C>T (p.Leu698=) rs774321681 0.00001
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp) rs1213728059 0.00001
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=) rs150719390 0.00001
NM_021625.5(TRPV4):c.2336+1G>A rs771778984 0.00001
NM_021625.5(TRPV4):c.2447G>A (p.Arg816His) rs1431224527 0.00001
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu) rs768620169 0.00001
NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp) rs1235218303 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.50A>G (p.Glu17Gly) rs989621170 0.00001
NM_021625.5(TRPV4):c.58G>A (p.Gly20Arg) rs764970185 0.00001
NM_021625.5(TRPV4):c.615C>A (p.Gly205=) rs377729962 0.00001
NM_021625.5(TRPV4):c.904A>T (p.Asn302Tyr) rs780551685 0.00001
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn) rs1006063188
NM_021625.5(TRPV4):c.1152+12G>T rs776419711
NM_021625.5(TRPV4):c.1152+15dup rs746148872
NM_021625.5(TRPV4):c.1333-16A>C rs199994834
NM_021625.5(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.5(TRPV4):c.1584+18G>C rs10850750
NM_021625.5(TRPV4):c.1585-15C>A rs1890178822
NM_021625.5(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs) rs1252509184
NM_021625.5(TRPV4):c.1825-15C>G rs200602134
NM_021625.5(TRPV4):c.1825-15C>T rs200602134
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.5(TRPV4):c.2102C>T (p.Thr701Ile) rs1592820343
NM_021625.5(TRPV4):c.2336+10G>C rs746178717
NM_021625.5(TRPV4):c.2349G>C (p.Val783=) rs778478432
NM_021625.5(TRPV4):c.2524G>A (p.Val842Met) rs1255642563
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.5(TRPV4):c.396G>T (p.Pro132=) rs114101785
NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser) rs754155333
NM_021625.5(TRPV4):c.409G>C (p.Ala137Pro) rs1592853492
NM_021625.5(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.5(TRPV4):c.652G>A (p.Glu218Lys) rs515726168
NM_021625.5(TRPV4):c.694C>A (p.Arg232Ser) rs387906904
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.5(TRPV4):c.712+1G>T rs1449705702
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.796G>C (p.Ala266Pro) rs752366465
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
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.947G>A (p.Arg316His) rs387906905

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.