ClinVar Miner

List of variants in gene SCN1A reported as benign 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
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP
NM_006920.6(SCN1A):c.1212A>G (p.Val404=)	rs7580482
NM_006920.6(SCN1A):c.1811G>A (p.Arg604His)	rs121918769
NM_006920.6(SCN1A):c.2259T>C (p.Val753=)	rs6432860
NM_006920.6(SCN1A):c.2914-41C>T	rs7601520
NM_006920.6(SCN1A):c.345T>C (p.Asn115=)	rs61741123

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