ClinVar Miner

List of variants reported as pathogenic for obsolete Dravet syndrome by Lifecell International Pvt. Ltd

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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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)	rs794726736
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)	rs794726778
NM_001165963.4(SCN1A):c.2589+3A>T	rs794726775
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)	rs794726697
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)	rs121917918
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)	rs398123593
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)	rs199727342
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)	rs794726726
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)	rs121917937

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