ClinVar Miner

List of variants in gene TRPV4 reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 48
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HGVS dbSNP
NM_021625.4(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547
NM_021625.4(TRPV4):c.137C>T (p.Ser46Phe) rs202066574
NM_021625.4(TRPV4):c.145C>A (p.Pro49Thr) rs546287338
NM_021625.4(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.4(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344
NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156
NM_021625.4(TRPV4):c.183C>T (p.Gly61=) rs773744592
NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) rs770149544
NM_021625.4(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422
NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512
NM_021625.4(TRPV4):c.1981C>T (p.Arg661Cys) rs772074281
NM_021625.4(TRPV4):c.202C>T (p.Arg68Cys) rs199624080
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) rs200199102
NM_021625.4(TRPV4):c.2102C>T (p.Thr701Ile) rs1592820343
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919
NM_021625.4(TRPV4):c.2447G>A (p.Arg816His) rs1431224527
NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) rs763302555
NM_021625.4(TRPV4):c.395C>T (p.Pro132Leu) rs779371027
NM_021625.4(TRPV4):c.50A>G (p.Glu17Gly) rs989621170
NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) rs146304351
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.4(TRPV4):c.58G>A (p.Gly20Arg) rs764970185
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.652G>A (p.Glu218Lys) rs515726168
NM_021625.4(TRPV4):c.694C>A (p.Arg232Ser) rs387906904
NM_021625.4(TRPV4):c.746G>A (p.Arg249His) rs771294425
NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023
NM_021625.4(TRPV4):c.904A>T (p.Asn302Tyr) rs780551685
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_021625.5(TRPV4):c.-16C>T rs0
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn) rs0
NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp) rs0
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln) rs0
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs) rs0
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp) rs0
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp) rs0
NM_021625.5(TRPV4):c.2336+1G>A rs0
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu) rs0
NM_021625.5(TRPV4):c.2524G>A (p.Val842Met) rs0
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys) rs0
NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp) rs0
NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser) rs0
NM_021625.5(TRPV4):c.409G>C (p.Ala137Pro) rs1592853492
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) rs0
NM_021625.5(TRPV4):c.712+1G>T rs0
NM_021625.5(TRPV4):c.796G>C (p.Ala266Pro) rs0

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