ClinVar Miner

List of variants studied for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (14):

Autism spectrum disorder; Epilepsy with myoclonic atonic seizures
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 with myoclonic atonic seizures
Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Idiopathic hemiconvulsion-hemiplegia syndrome
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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)	rs25409	0.00354
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)	rs191293931	0.00026
NM_000814.6(GABRB3):c.1269C>G (p.His423Gln)	rs76962261	0.00004
NM_000814.6(GABRB3):c.969G>A (p.Glu323=)	rs77608123	0.00003
NM_001271.4(CHD2):c.594G>C (p.Gln198His)	rs374064833	0.00001
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg)	rs1567139944
NM_001271.4(CHD2):c.1805A>G (p.Asp602Gly)	rs1567140845
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter)	rs397514740
NM_004408.4(DNM1):c.1872C>T (p.Gly624=)	rs1367619284

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