ClinVar Miner

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

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Gene type:
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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.2330T>A (p.Ile777Asn) rs1599706522
NM_152296.5(ATP1A3):c.998G>A (p.Cys333Tyr)

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