ClinVar Miner

List of variants in gene TRPV4 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.789T>C (p.Asp263=) rs3742034 0.12664
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
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.1153-10C>T rs149541389 0.00547
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_021625.5(TRPV4):c.1284G>A (p.Gly428=) rs150773110 0.00093
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.1491+10C>T rs201815805 0.00041
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_021625.5(TRPV4):c.2559C>T (p.Cys853=) rs139580010 0.00021
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=) rs202036871 0.00019
NM_021625.5(TRPV4):c.2247C>T (p.Pro749=) rs141135321 0.00005
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His) rs377257364 0.00003
NM_021625.5(TRPV4):c.2106C>T (p.Tyr702=) rs373961067 0.00002
NM_021625.5(TRPV4):c.1233T>C (p.Tyr411=) rs886042740
NM_021625.5(TRPV4):c.1584+18G>C rs10850750
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785

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