ClinVar Miner

List of variants in gene ATP1A3 reported as likely pathogenic for Dystonia 12

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His) rs145179304 0.00004
NM_152296.5(ATP1A3):c.7-2A>C rs1555866356 0.00001
NM_152296.5(ATP1A3):c.1036T>C (p.Cys346Arg) rs1599719534
NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)
NM_152296.5(ATP1A3):c.1108A>G (p.Thr370Ala) rs2145972442
NM_152296.5(ATP1A3):c.1109C>T (p.Thr370Ile)
NM_152296.5(ATP1A3):c.1302+1G>A rs1599719130
NM_152296.5(ATP1A3):c.1438-2A>G rs2075199553
NM_152296.5(ATP1A3):c.1630+2T>C rs2145965854
NM_152296.5(ATP1A3):c.1790G>A (p.Arg597His) rs1599715341
NM_152296.5(ATP1A3):c.1807-2A>G
NM_152296.5(ATP1A3):c.2051C>A (p.Ser684Tyr)
NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe) rs397515577
NM_152296.5(ATP1A3):c.2094+2_2094+3del
NM_152296.5(ATP1A3):c.2095-1G>A rs2145959709
NM_152296.5(ATP1A3):c.2195C>A (p.Ser732Tyr) rs1599712523
NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu) rs1599712456
NM_152296.5(ATP1A3):c.2303A>G (p.Tyr768Cys) rs1599706613
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro) rs1599706511
NM_152296.5(ATP1A3):c.2407G>C (p.Gly803Arg) rs2075090666
NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg) rs549006436
NM_152296.5(ATP1A3):c.2428A>G (p.Ile810Val)
NM_152296.5(ATP1A3):c.2631dup (p.Leu878fs) rs2145945887
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) rs1599725621
NM_152296.5(ATP1A3):c.2677G>C (p.Gly893Arg) rs1568853466
NM_152296.5(ATP1A3):c.2689-1G>T rs2145944794
NM_152296.5(ATP1A3):c.2733CTT[1] (p.Phe913del)
NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys) rs2145942372
NM_152296.5(ATP1A3):c.2921+1G>C rs2075058462
NM_152296.5(ATP1A3):c.2977_2982dup (p.Ile994_Arg995insGluIle)
NM_152296.5(ATP1A3):c.724+1G>T rs2075276177
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg) rs2145977694
NM_152296.5(ATP1A3):c.977T>C (p.Leu326Pro)
NM_152296.5(ATP1A3):c.994-1G>A

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