ClinVar Miner

List of variants in gene TRPV4 reported as likely benign for Scapuloperoneal spinal muscular atrophy

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Gene type:
ClinVar version:
Total variants: 11
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NM_021625.4(TRPV4):c.1211G>A (p.Arg404His) rs377257364
NM_021625.4(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874
NM_021625.4(TRPV4):c.1584C>T (p.Asn528=) rs142749412
NM_021625.4(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) rs200199102
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919
NM_021625.4(TRPV4):c.2439C>T (p.Thr813=) rs545589086
NM_021625.4(TRPV4):c.2484C>T (p.Arg828=) rs142656819
NM_021625.4(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_021625.4(TRPV4):c.963C>A (p.Gly321=) rs148534854

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