ClinVar Miner

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

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Total variants: 10
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NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) rs185933892
NM_021625.4(TRPV4):c.2034C>T (p.Ile678=) rs3742037
NM_021625.4(TRPV4):c.2459-9T>G rs115373018
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) rs3742030
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.670A>C (p.Arg224=) rs3825394
NM_021625.4(TRPV4):c.789T>C (p.Asp263=) rs3742034
NM_021625.4(TRPV4):c.795C>T (p.His265=) rs1344554
NM_021625.4(TRPV4):c.81T>C (p.Gly27=) rs34599967
NM_021625.4(TRPV4):c.854-5C>T rs116401333

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