ClinVar Miner

List of variants studied for ATP1A3-associated neurological disorder by OMIM

Included ClinVar conditions (8):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.1081T>C (p.Ser361Pro) rs2145972497
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser) rs80356535
NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu) rs80356536
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr) rs80356537
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.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr) 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.3035ACT[3] (p.Tyr1013dup) rs397515382
NM_152296.5(ATP1A3):c.821T>A (p.Ile274Asn) rs80356532
NM_152296.5(ATP1A3):c.821T>C (p.Ile274Thr) rs80356532
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) rs80356533
NM_152296.5(ATP1A3):c.875T>G (p.Leu292Arg) rs2145977887
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser) rs869320661
NM_152296.5(ATP1A3):c.947G>T (p.Gly316Val) rs2145977758

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