ClinVar Miner

List of variants in gene TRPV4 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
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.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.1308C>T (p.Ile436=) rs141244183 0.00108
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=) rs149988106 0.00071
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=) rs141295418 0.00043
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.1378C>T (p.Arg460Trp) rs34227547 0.00020
NM_021625.5(TRPV4):c.1278G>A (p.Thr426=) rs139179261 0.00015
NM_021625.5(TRPV4):c.144G>A (p.Ser48=) rs748274621 0.00006
NM_021625.5(TRPV4):c.963C>A (p.Gly321=) rs148534854 0.00006
NM_021625.5(TRPV4):c.153G>A (p.Pro51=) rs577306678 0.00004
NM_021625.5(TRPV4):c.1899C>T (p.Val633=) rs753027239 0.00004
NM_021625.5(TRPV4):c.1989C>T (p.Ser663=) rs778560334 0.00004
NM_021625.5(TRPV4):c.1104C>T (p.Asn368=) rs768593770 0.00003
NM_021625.5(TRPV4):c.1379G>A (p.Arg460Gln) rs202244562 0.00003
NM_021625.5(TRPV4):c.36C>T (p.Pro12=) rs550200361 0.00003
NM_021625.5(TRPV4):c.465T>C (p.Phe155=) rs776500475 0.00003
NM_021625.5(TRPV4):c.771C>T (p.Leu257=) rs778796999 0.00002
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=) rs189872222 0.00001
NM_021625.5(TRPV4):c.1482G>A (p.Leu494=) rs143722984 0.00001
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=) rs150719390 0.00001
NM_021625.5(TRPV4):c.2349G>A (p.Val783=) rs778478432 0.00001
NM_021625.5(TRPV4):c.330C>T (p.Tyr110=) rs777176504 0.00001
NM_021625.5(TRPV4):c.624C>T (p.Asp208=) rs372000524 0.00001
NM_021625.5(TRPV4):c.1011G>A (p.Glu337=)
NM_021625.5(TRPV4):c.1614T>G (p.Pro538=)
NM_021625.5(TRPV4):c.2382C>T (p.Ile794=)
NM_021625.5(TRPV4):c.2481C>T (p.Pro827=) rs775524996
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.5(TRPV4):c.903C>G (p.Val301=) rs748103823

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