ClinVar Miner

List of variants in gene GABRA1 reported as likely pathogenic for Dravet syndrome

Included ClinVar conditions (12):

Early infantile epileptic encephalopathy 4
Early infantile epileptic encephalopathy 4; Cerebellar vermis hypoplasia
Early infantile epileptic encephalopathy 4; West syndrome; Cerebellar vermis hypoplasia
Epilepsy, juvenile myoclonic 5; Epileptic encephalopathy, early infantile, 19
Epileptic encephalopathy, early infantile, 19
Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2
Primary erythromelalgia; Hereditary sensory and autonomic neuropathy type IIA; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Indifference to pain, congenital, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Indifference to pain, congenital, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 7
Severe myoclonic epilepsy in infancy
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy; Seizure disorder

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP
NM_000806.5(GABRA1):c.799C>A (p.Leu267Ile)	rs796052492
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln)	rs775157869
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)	rs886039373
NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile)	rs1060499553

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.