ClinVar Miner

List of variants reported as pathogenic for developmental and epileptic encephalopathy 99 by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (2):

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99
Developmental and epileptic encephalopathy 99

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp)	rs1555863693
NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly)	rs797044897

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