ClinVar Miner

List of variants studied for obsolete Dravet syndrome by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

Included ClinVar conditions (19):

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.1295T>A (p.Ile432Lys)	rs1841768122
NM_001127644.2(GABRA1):c.763A>T (p.Ile255Phe)	rs1755061747
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)	rs1689278062

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