ClinVar Miner

List of variants studied for Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp) rs1555863693
NM_152296.5(ATP1A3):c.2146AAG[1] (p.Lys717del) rs1064795403
NM_152296.5(ATP1A3):c.2780G>A (p.Cys927Tyr) rs606231444
NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly) rs797044897

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