ClinVar Miner

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

Included ClinVar conditions (20):

Developmental and epileptic encephalopathy, 19
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy, 4; Cerebellar vermis hypoplasia
Developmental and epileptic encephalopathy, 4; Nail-patella syndrome
Developmental and epileptic encephalopathy, 4; West syndrome; Cerebellar vermis hypoplasia
Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epileptic encephalopathy, 19
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Febrile seizures, familial, 1; Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B
Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7
Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, 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; Acute encephalopathy
Severe myoclonic epilepsy in infancy; Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy; Epilepsy
Severe myoclonic epilepsy in infancy; Familial hemiplegic migraine; Generalized epilepsy with febrile seizures plus; Early infantile epileptic encephalopathy with suppression bursts
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Febrile seizures, familial, 3a; Developmental and epileptic encephalopathy 6B

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln)	rs1376907797	0.00001
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln)	rs775157869
NM_001127644.2(GABRA1):c.269A>T (p.Asp90Val)	rs2532239106
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)	rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)	rs886039373
NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile)	rs1554086436
NM_001127644.2(GABRA1):c.647A>T (p.Asn216Ile)	rs2532261903
NM_001127644.2(GABRA1):c.763A>T (p.Ile255Phe)	rs1755061747
NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter)	rs2532280401
NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile)	rs1060499553
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)	rs796052492
NM_001127644.2(GABRA1):c.839C>T (p.Pro280Leu)	rs2532280628
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs)	rs1561587715
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)	rs796052496
NM_001127644.2(GABRA1):c.922G>A (p.Ala308Thr)	rs1755334003
NM_001127644.2(GABRA1):c.953C>T (p.Ala318Val)

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