ClinVar Miner

List of variants in gene TRPV4 reported as benign

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Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_021625.4(TRPV4):c.-228T>C rs7303725 0.64484
NM_021625.5(TRPV4):c.670A>C (p.Arg224=) rs3825394 0.60669
NM_021625.5(TRPV4):c.853+205_853+206insGA rs34599423 0.57936
NM_021625.5(TRPV4):c.2459-48C>G rs10774894 0.48724
NM_021625.5(TRPV4):c.2209-280T>G rs1861810 0.48605
NM_021625.5(TRPV4):c.1892-275T>C rs10774897 0.40491
NM_021625.5(TRPV4):c.2208+282G>C rs7299388 0.40306
NM_021625.5(TRPV4):c.387-110A>G rs3742031 0.28298
NM_021625.5(TRPV4):c.1153-149A>G rs3742035 0.25411
NM_021625.5(TRPV4):c.2034C>T (p.Ile678=) rs3742037 0.14446
NM_021625.5(TRPV4):c.1659-90C>T rs56186049 0.14432
NM_021625.5(TRPV4):c.789T>C (p.Asp263=) rs3742034 0.12664
NM_021625.5(TRPV4):c.853+158T>C rs16940583 0.12634
NC_000012.12:g.109833579C>T rs78776966 0.11000
NM_021625.5(TRPV4):c.1153-189G>A rs3825396 0.10144
NM_021625.5(TRPV4):c.853+121T>C rs3825395 0.09916
NM_021625.5(TRPV4):c.1491+100C>A rs59940634 0.09759
NM_021625.5(TRPV4):c.1491+102C>T rs59870578 0.09756
NM_021625.5(TRPV4):c.1152+300G>A rs12301787 0.08995
NM_021625.5(TRPV4):c.2209-274G>A rs60258652 0.08550
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.1491+86C>G rs56214813 0.02975
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_021625.5(TRPV4):c.2337-293C>T rs115336097 0.02658
NM_021625.5(TRPV4):c.2337-339T>C rs191500524 0.02641
NM_021625.5(TRPV4):c.2459-52C>T rs56097017 0.02584
NM_021625.5(TRPV4):c.2336+241G>A rs115577426 0.02572
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_021625.5(TRPV4):c.1152+72T>C rs12304529 0.02427
NM_021625.5(TRPV4):c.386+212G>A rs111548654 0.02366
NM_021625.5(TRPV4):c.1891+48G>A rs75939154 0.02357
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_021625.5(TRPV4):c.2337-119C>T rs143762791 0.02064
NM_021625.5(TRPV4):c.2209-216G>T rs114421262 0.01884
NM_021625.5(TRPV4):c.2458+124G>A rs116292460 0.01769
NM_021625.5(TRPV4):c.387-156A>C rs12315230 0.01733
NM_021625.5(TRPV4):c.387-184C>T rs12305544 0.01637
NM_021625.5(TRPV4):c.559+123G>A rs12310610 0.01633
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.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.*423G>A rs151286044 0.00565
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.*378G>C rs538255561 0.00305
NM_021625.5(TRPV4):c.712+10C>T rs115657305 0.00260
NM_021625.5(TRPV4):c.713-33C>T rs3742033 0.00229
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_021625.5(TRPV4):c.*365C>T rs184413363 0.00210
NM_021625.5(TRPV4):c.1825-14G>A rs114829048 0.00206
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.1581C>T (p.Thr527=) rs114653066 0.00182
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_021625.5(TRPV4):c.*230G>A rs181542514 0.00171
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.*486T>C rs79157363 0.00103
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.*190C>T rs141636597 0.00077
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.1539C>T (p.Gly513=) rs141295418 0.00043
NM_021625.5(TRPV4):c.1093G>A (p.Val365Met) rs570675468 0.00042
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.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.1584+13C>T rs199712027 0.00020
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.1658+15C>T rs200083069 0.00016
NM_021625.5(TRPV4):c.1884C>T (p.Tyr628=) rs369752162 0.00016
NM_021625.5(TRPV4):c.1278G>A (p.Thr426=) rs139179261 0.00015
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=) rs146929022 0.00010
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met) rs140535889 0.00008
NM_021625.5(TRPV4):c.2307C>T (p.Asp769=) rs200372627 0.00008
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=) rs546957932 0.00007
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=) rs140040335 0.00004
NM_021625.5(TRPV4):c.1491+17C>T rs763452614 0.00004
NM_021625.5(TRPV4):c.2388C>T (p.Asn796=) rs116685089 0.00004
NM_021625.5(TRPV4):c.936G>A (p.Ala312=) rs202084699 0.00004
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys) rs370289434 0.00003
NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr) rs758280554 0.00002
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=) rs189872222 0.00001
NM_021625.5(TRPV4):c.2076C>T (p.Pro692=) rs769988861 0.00001
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val) rs548909101 0.00001
NM_021625.5(TRPV4):c.-32+202T>C rs4635144
NM_021625.5(TRPV4):c.1152+15dup rs746148872
NM_021625.5(TRPV4):c.1333-16A>C rs199994834
NM_021625.5(TRPV4):c.1337G>T (p.Arg446Leu) rs143502097
NM_021625.5(TRPV4):c.1570T>G (p.Phe524Val) rs587777890
NM_021625.5(TRPV4):c.1584+17dup rs1011607708
NM_021625.5(TRPV4):c.1584+18G>C rs10850750
NM_021625.5(TRPV4):c.1585-14dup
NM_021625.5(TRPV4):c.1825-15C>G rs200602134
NM_021625.5(TRPV4):c.1825-15C>T rs200602134
NM_021625.5(TRPV4):c.1891+120G>T rs367970577
NM_021625.5(TRPV4):c.1891+274dup rs527506694
NM_021625.5(TRPV4):c.2208+19del rs1410930643
NM_021625.5(TRPV4):c.2337-16G>A rs373195035
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.5(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.5(TRPV4):c.712+125GATG[8] rs111807515
NM_021625.5(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021625.5(TRPV4):c.854-243_854-242del rs1038182364

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