ClinVar Miner

List of variants reported as pathogenic for alternating hemiplegia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (12):

Alternating hemiplegia of childhood
Alternating hemiplegia of childhood 1
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98
Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99
Congenital adrenal hypoplasia, X-linked
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2
Dystonia 12; Alternating hemiplegia of childhood 2
Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99
Migraine, familial hemiplegic, 2; Alternating hemiplegia of childhood

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter)
NM_001127222.2(CACNA1A):c.1914-2A>C
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser)	rs606231437

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