ClinVar Miner

List of variants reported as pathogenic for Dystonia 12 by Invitae

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NC_000019.10:g.(?_41968775)_(41970552_?)del
NC_000019.9:g.(?_42471089)_(42486278_?)del
NC_000019.9:g.(?_42479761)_(42492734_?)del
NC_000019.9:g.(?_42489050)_(42490401_?)del
NM_152296.5(ATP1A3):c.1072G>A (p.Gly358Ser) rs606231432
NM_152296.5(ATP1A3):c.1072G>T (p.Gly358Cys) rs606231432
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp) rs1555863693
NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr) rs2145972483
NM_152296.5(ATP1A3):c.1299del (p.Lys434fs)
NM_152296.5(ATP1A3):c.1429A>T (p.Lys477Ter) rs2145971509
NM_152296.5(ATP1A3):c.1784_1792del (p.Lys595_Arg597del)
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.1930C>T (p.Gln644Ter) rs1555861946
NM_152296.5(ATP1A3):c.1959C>A (p.Cys653Ter) rs782105093
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg)
NM_152296.5(ATP1A3):c.2144T>C (p.Leu715Pro) rs2075159021
NM_152296.5(ATP1A3):c.2153C>A (p.Ala718Asp) rs2075158829
NM_152296.5(ATP1A3):c.2167G>C (p.Ala723Pro)
NM_152296.5(ATP1A3):c.2224GAC[1] (p.Asp743del)
NM_152296.5(ATP1A3):c.2263G>A (p.Gly755Ser) rs557052809
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys) rs557052809
NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala) rs606231434
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.2315G>A (p.Ser772Asn) rs1064795234
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser) rs606231437
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr) rs80356537
NM_152296.5(ATP1A3):c.2408G>A (p.Gly803Asp) rs1555859571
NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu) rs606231439
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro) rs387907282
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.2542+1G>A rs606231441
NM_152296.5(ATP1A3):c.2542+1G>C rs606231441
NM_152296.5(ATP1A3):c.2652dup (p.Val885fs) rs2145945849
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) rs1599725621
NM_152296.5(ATP1A3):c.2673_2678del (p.Ser891_Gly893delinsArg) rs2145945805
NM_152296.5(ATP1A3):c.2677G>A (p.Gly893Arg) rs1568853466
NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del) rs606231443
NM_152296.5(ATP1A3):c.2759A>C (p.Gln920Pro)
NM_152296.5(ATP1A3):c.2763G>A (p.Trp921Ter) rs1060500993
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr) rs267606670
NM_152296.5(ATP1A3):c.2768A>C (p.Asp923Ala) rs2075071528
NM_152296.5(ATP1A3):c.2771T>C (p.Leu924Pro) rs1555859157
NM_152296.5(ATP1A3):c.281T>C (p.Leu94Pro)
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.2839G>T (p.Gly947Trp) rs398122887
NM_152296.5(ATP1A3):c.2902del (p.Leu968fs)
NM_152296.5(ATP1A3):c.2966_2996del (p.Phe989fs)
NM_152296.5(ATP1A3):c.3013+1G>A rs2145941195
NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr) rs542652468
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) rs542652468
NM_152296.5(ATP1A3):c.562C>T (p.Arg188Ter) rs2075282510
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) rs80356533
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser) rs869320661
NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met) rs529241207
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro) rs879255368
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg) rs1131691307

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