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

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Gene type:		Distinguish antisense genes from sense genes
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Total variants: 5

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HGVS	dbSNP
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln)	rs775157869
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln)
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)	rs886039373
NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile)	rs1060499553
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)	rs796052492

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