ClinVar Miner

List of variants reported as likely benign for childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy by Fulgent Genetics, Fulgent Genetics

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

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=)	rs35513423	0.01020
NM_003042.4(SLC6A1):c.960C>T (p.Ser320=)	rs35972647	0.00702
NM_001271.4(CHD2):c.2577+7T>C	rs146944583	0.00371
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg)	rs117844037	0.00256
NM_003042.4(SLC6A1):c.953+19G>A	rs113968319	0.00077
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser)	rs192913494	0.00066
NM_001271.4(CHD2):c.5058C>T (p.Ser1686=)	rs199851404	0.00001
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln)	rs763288862	0.00001
NM_004408.4(DNM1):c.633C>T (p.Asp211=)	rs1043525791	0.00001
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=)	rs150268140

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