ClinVar Miner

List of variants in gene TRPV4 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023 0.00005
NM_021625.5(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422 0.00003
NM_021625.5(TRPV4):c.2158G>A (p.Glu720Lys) rs1481500312 0.00002
NM_021625.5(TRPV4):c.29C>T (p.Ala10Val) rs772563295 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021625.5(TRPV4):c.1577T>G (p.Phe526Cys) rs1329377960 0.00001
NM_021625.5(TRPV4):c.2211G>A (p.Trp737Ter) rs1035249096 0.00001
NM_021625.5(TRPV4):c.1515G>A (p.Thr505=) rs1056692999
NM_021625.5(TRPV4):c.179C>T (p.Pro60Leu) rs763266931
NM_021625.5(TRPV4):c.2584del (p.Arg862fs) rs746597270
NM_021625.5(TRPV4):c.599T>C (p.Leu200Pro) rs2136560717
NM_021625.5(TRPV4):c.713-2dup rs760776284

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