ClinVar Miner

List of variants studied for Dravet syndrome by Institute of Human Genetics,Klinikum rechts der Isar

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

Minimum submission review status:		Collection method:
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Total variants: 5

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HGVS	dbSNP
GRCh37/hg19 2q24.3(chr2:166767837-167334206)
NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter)
NM_001032221.6(STXBP1):c.308A>C (p.His103Pro)
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln)
NM_006920.6(SCN1A):c.2723_2724GT[1] (p.Val909fs)

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