ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_152296.5(ATP1A3):c.1004C>A (p.Thr335Lys) rs1131691940
NM_152296.5(ATP1A3):c.1801A>R (p.Ile601Xaa)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2330T>A (p.Ile777Asn) rs1599706522
NM_152296.5(ATP1A3):c.2401G>C (p.Asp801His) rs80356537
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887
NM_152296.5(ATP1A3):c.991A>C (p.Thr331Pro)

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