ClinVar Miner

List of variants reported as uncertain significance for Lennox-Gastaut syndrome by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (12):

Developmental and epileptic encephalopathy 94
Developmental and epileptic encephalopathy, 31A
Developmental and epileptic encephalopathy, 31A; Developmental and epileptic encephalopathy, 31B
Developmental and epileptic encephalopathy, 43
Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Lennox-Gastaut syndrome; CACNA1A-related complex neurodevelopmental disorder
Intellectual disability, autosomal dominant 6; West syndrome; Lennox-Gastaut syndrome; GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Intellectual disability; Benign neonatal seizures; Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
Macrocephaly and epileptic encephalopathy
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 1; Autism spectrum disorder; SCN2A-related generalized epilepsy with febrile seizures plus; West syndrome; Epilepsy with myoclonic atonic seizures; Non-syndromic intellectual disability; Lennox-Gastaut syndrome; Continuous spikes and waves during sleep
West syndrome; Lennox-Gastaut syndrome

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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_000814.6(GABRB3):c.694C>T (p.Arg232Ter)	rs1595445975
NM_001271.4(CHD2):c.2892T>G (p.Asn964Lys)	rs2505549924
NM_001271.4(CHD2):c.827C>T (p.Ala276Val)	rs2505446619

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