ClinVar Miner

List of variants in gene TRPV4 reported as uncertain significance for Distal spinal muscular atrophy, congenital nonprogressive

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Total variants: 14
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NM_021625.4(TRPV4):c.*212G>A rs886048938
NM_021625.4(TRPV4):c.*405G>A rs886048937
NM_021625.4(TRPV4):c.*51G>A rs886048939
NM_021625.4(TRPV4):c.*99C>T rs552478250
NM_021625.4(TRPV4):c.1211G>A (p.Arg404His) rs377257364
NM_021625.4(TRPV4):c.1352C>T (p.Ala451Val) rs886048940
NM_021625.4(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874
NM_021625.4(TRPV4):c.1601T>C (p.Met534Thr) rs775011025
NM_021625.4(TRPV4):c.171T>C (p.Pro57=) rs886048941
NM_021625.4(TRPV4):c.1796C>G (p.Thr599Arg) rs769225216
NM_021625.4(TRPV4):c.2236C>G (p.Arg746Gly) rs375189134
NM_021625.4(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764
NM_021625.4(TRPV4):c.622G>A (p.Asp208Asn) rs769445973
NM_021625.4(TRPV4):c.963C>A (p.Gly321=) rs148534854

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