ClinVar Miner

List of variants in gene TRPV4 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 116
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.2337-246A>T rs61581475 0.01493
NM_021625.5(TRPV4):c.1492-73G>C rs556367250 0.00997
NM_021625.5(TRPV4):c.854-310C>T rs144509432 0.00927
NM_021625.5(TRPV4):c.1153-254T>C rs116802900 0.00912
NM_021625.5(TRPV4):c.387-196A>G rs144279220 0.00842
NM_021625.5(TRPV4):c.2459-245C>T rs138897708 0.00841
NM_021625.5(TRPV4):c.1892-151G>A rs117793063 0.00827
NM_021625.5(TRPV4):c.1153-198A>G rs192060971 0.00824
NM_021625.5(TRPV4):c.1492-55G>A rs372093661 0.00779
NM_021625.5(TRPV4):c.854-84G>A rs150828451 0.00765
NM_021625.5(TRPV4):c.1333-124A>G rs116148421 0.00760
NM_021625.5(TRPV4):c.854-230T>C rs139232208 0.00729
NM_021625.5(TRPV4):c.1659-248C>T rs116322034 0.00689
NM_021625.5(TRPV4):c.2459-191G>C rs535833062 0.00487
NM_021625.5(TRPV4):c.1891+47C>T rs145460865 0.00483
NM_021625.5(TRPV4):c.853+156G>A rs538010988 0.00482
NM_021625.5(TRPV4):c.386+180G>A rs146729167 0.00396
NM_021625.5(TRPV4):c.2336+124C>T rs140010635 0.00372
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.1825-14G>A rs114829048 0.00206
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.1585-18C>T rs201974634 0.00148
NM_021625.5(TRPV4):c.28G>C (p.Ala10Pro) rs376436045 0.00141
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
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.898A>G (p.Ile300Val) rs114612488 0.00046
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+12G>T rs375908611 0.00022
NM_021625.5(TRPV4):c.2559C>T (p.Cys853=) rs139580010 0.00021
NM_021625.5(TRPV4):c.1584+13C>T rs199712027 0.00020
NM_021625.5(TRPV4):c.2209-5C>T rs374184761 0.00019
NM_021625.5(TRPV4):c.1658+15C>T rs200083069 0.00016
NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu) rs201927283 0.00016
NM_021625.5(TRPV4):c.1278G>A (p.Thr426=) rs139179261 0.00015
NM_021625.5(TRPV4):c.732C>T (p.Ile244=) rs142647385 0.00014
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=) rs146929022 0.00010
NM_021625.5(TRPV4):c.1491+8C>T rs752455441 0.00009
NM_021625.5(TRPV4):c.2514G>A (p.Pro838=) rs576688961 0.00009
NM_021625.5(TRPV4):c.2307C>T (p.Asp769=) rs200372627 0.00008
NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu) rs756185743 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.226C>T (p.Arg76Cys) rs777647151 0.00006
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=) rs142656819 0.00006
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764 0.00006
NM_021625.5(TRPV4):c.1885G>A (p.Ala629Thr) rs200838499 0.00005
NM_021625.5(TRPV4):c.*1G>A rs927502204 0.00004
NM_021625.5(TRPV4):c.1062C>T (p.Ala354=) rs115446386 0.00004
NM_021625.5(TRPV4):c.1584+18G>A rs10850750 0.00004
NM_021625.5(TRPV4):c.1584+18del rs757667255 0.00004
NM_021625.5(TRPV4):c.2388C>T (p.Asn796=) rs116685089 0.00004
NM_021625.5(TRPV4):c.*8A>C rs751605215 0.00003
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.114T>A (p.Asn38Lys) rs878853090 0.00003
NM_021625.5(TRPV4):c.1152+10C>T rs766655934 0.00003
NM_021625.5(TRPV4):c.1422C>T (p.Asn474=) rs140533102 0.00003
NM_021625.5(TRPV4):c.2604C>T (p.Asp868=) rs111598467 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.1578C>T (p.Phe526=) rs762257218 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.651G>A (p.Ala217=) rs371280831 0.00002
NM_021625.5(TRPV4):c.1134C>T (p.Ala378=) rs375468689 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.15C>T (p.Ser5=) rs751824781 0.00001
NM_021625.5(TRPV4):c.1857C>T (p.Leu619=) rs781048658 0.00001
NM_021625.5(TRPV4):c.1892-9C>T rs376975164 0.00001
NM_021625.5(TRPV4):c.2088C>T (p.Ile696=) rs367846257 0.00001
NM_021625.5(TRPV4):c.2226G>A (p.Leu742=) rs769329467 0.00001
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=) rs545589086 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.58G>A (p.Gly20Arg) rs764970185 0.00001
NM_021625.5(TRPV4):c.615C>A (p.Gly205=) rs377729962 0.00001
NM_021625.5(TRPV4):c.690C>T (p.Pro230=) rs747822070 0.00001
NM_021625.5(TRPV4):c.6G>A (p.Ala2=) rs1392798743 0.00001
NM_021625.5(TRPV4):c.713-16C>T rs777854437 0.00001
NM_021625.5(TRPV4):c.724C>T (p.Leu242=) rs1038246935 0.00001
NM_021625.5(TRPV4):c.855G>T (p.Gly285=) rs879253959 0.00001
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn) rs1006063188
NM_021625.5(TRPV4):c.126G>A (p.Gly42=) rs1057523956
NM_021625.5(TRPV4):c.1392C>G (p.Arg464=) rs182609216
NM_021625.5(TRPV4):c.1434C>T (p.Tyr478=) rs749421876
NM_021625.5(TRPV4):c.1584+12G>A rs375908611
NM_021625.5(TRPV4):c.1825-15C>G rs200602134
NM_021625.5(TRPV4):c.1825-15C>T rs200602134
NM_021625.5(TRPV4):c.1891+119del rs768558199
NM_021625.5(TRPV4):c.1891+98dup rs768558199
NM_021625.5(TRPV4):c.1892-13T>C rs1555205476
NM_021625.5(TRPV4):c.2208+3G>A rs1057523473
NM_021625.5(TRPV4):c.2304G>A (p.Ser768=) rs138986228
NM_021625.5(TRPV4):c.2337-16G>A rs373195035
NM_021625.5(TRPV4):c.2458+15G>T rs372913114
NM_021625.5(TRPV4):c.2459-38del rs140304475
NM_021625.5(TRPV4):c.712+19C>A rs1057521014
NM_021625.5(TRPV4):c.713-13C>T rs1361037363
NM_021625.5(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021625.5(TRPV4):c.792C>A (p.Val264=) rs867185488
NM_021625.5(TRPV4):c.854-242del rs1038182364
NM_021625.5(TRPV4):c.871C>T (p.Leu291=) rs1057521414
NM_021625.5(TRPV4):c.957G>A (p.Ser319=) rs116698155

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.