ClinVar Miner

List of variants in gene ATP1A2 reported as pathogenic for alternating hemiplegia of childhood

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His) rs765909830 0.00001
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn) rs2101995480
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_000702.4(ATP1A2):c.36dup (p.Ala13fs)
NM_000702.4(ATP1A2):c.879C>G (p.Ile293Met) rs1553244746

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