ClinVar Miner

List of variants reported as not provided for Lennox-Gastaut syndrome by GenomeConnect, ClinGen

Included ClinVar conditions (10):

Developmental and epileptic encephalopathy 94
Developmental and epileptic encephalopathy, 31
Developmental and epileptic encephalopathy, 43
Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43
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; Myoclonic-astatic epilepsy; 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000814.6(GABRB3):c.928C>A (p.Leu310Ile)	rs1889964767
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter)	rs797044912
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His)	rs1009699195
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	rs796052676

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.