ClinVar Miner

List of variants studied for Dystonia 12 by GeneReviews

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp) rs1555863693
NM_152296.5(ATP1A3):c.1073G>T (p.Gly358Val) rs1555863693
NM_152296.5(ATP1A3):c.1088T>A (p.Ile363Asn) rs2145972483
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2267G>T (p.Arg756Leu) rs606231435
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp) rs606231442
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys) rs2145942372
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) rs1555865401
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) rs80356533
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser) rs869320661

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