ClinVar Miner

List of variants studied for Dravet syndrome by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (13):

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)	rs1553547448
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)	rs794726778
NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)	rs1553532671
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)	rs796053001
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)	rs121918631
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe)	rs794726809
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)	rs1573947939
NM_001165963.4(SCN1A):c.602+1G>A

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