List of variants in gene ATP1A3 reported as pathogenic for alternating hemiplegia of childhood

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)
NM_152296.5(ATP1A3):c.1165G>A (p.Glu389Lys)	rs1555863623
NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)	rs782175860
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.2318A>G (p.Asn773Ser)	rs606231437
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2407G>A (p.Gly803Ser)	rs2075090666
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.2512_2516delinsTC (p.Arg838_Leu839delinsSer)	rs1057516032
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.2840G>A (p.Gly947Glu)	rs886041431
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)	rs542652468
NM_152296.5(ATP1A3):c.821T>A (p.Ile274Asn)	rs80356532
NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met)	rs529241207

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