ClinVar Miner

List of variants in gene TRPV4 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 20
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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.33G>T (p.Gly11=) rs56092423 0.00939
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
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.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_021625.5(TRPV4):c.1584+13C>T rs199712027 0.00020
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_021625.5(TRPV4):c.1379G>A (p.Arg460Gln) rs202244562 0.00003
NM_021625.5(TRPV4):c.2447G>A (p.Arg816His) rs1431224527 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_021625.5(TRPV4):c.1354G>A (p.Val452Met) rs2136485067
NM_021625.5(TRPV4):c.1584+18G>C rs10850750

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