ClinVar Miner

List of variants studied for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy by Genome-Nilou Lab

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001271.4(CHD2):c.2049A>G (p.Glu683=)	rs4777755	0.77324
NM_001271.4(CHD2):c.4414-45C>T	rs12915582	0.75991
NM_001271.4(CHD2):c.2727+38T>G	rs11074122	0.75511
NM_001271.4(CHD2):c.2718A>G (p.Gln906=)	rs11074121	0.75493
NM_001271.4(CHD2):c.2728-53G>A	rs2272461	0.62681
NM_004408.4(DNM1):c.1008C>T (p.Phe336=)	rs3003609	0.41986
NM_000814.6(GABRB3):c.1080+15A>G	rs3751582	0.34839
NM_001271.4(CHD2):c.5416A>C (p.Arg1806=)	rs12906163	0.28315
NM_001271.4(CHD2):c.3564C>T (p.Tyr1188=)	rs2272457	0.23362
NM_001271.4(CHD2):c.4692+43A>G	rs2119010	0.18154
NM_001271.4(CHD2):c.5154-74C>T	rs12905033	0.17307
NM_001271.4(CHD2):c.5154-75C>T	rs12905032	0.17303

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