ClinVar Miner

List of variants studied for Dravet syndrome by Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan

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
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001037.5(SCN1B):c.166G>A (p.Glu56Lys)	rs774152936	0.00001
NM_001165963.4(SCN1A):c.1005del (p.Cys336fs)
NM_001165963.4(SCN1A):c.1377+1G>A
NM_001165963.4(SCN1A):c.2846G>T (p.Cys949Phe)
NM_001165963.4(SCN1A):c.2862_2863dup (p.Thr955fs)
NM_001165963.4(SCN1A):c.311C>A (p.Ala104Asp)	rs1553553527
NM_001165963.4(SCN1A):c.3880-2_3880-1del
NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)
NM_001165963.4(SCN1A):c.4284+1G>A	rs1553524865
NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)
NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	rs121917980
NM_001165963.4(SCN1A):c.5489dup (p.Phe1831fs)	rs1573945872
NM_001165963.4(SCN1A):c.947C>A (p.Ser316Ter)

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