ClinVar Miner

List of variants reported as not provided for generalized epilepsy with febrile seizures plus, type 2

Included ClinVar conditions (9):

Febrile seizures, familial, 3a
Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B
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
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
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Febrile seizures, familial, 3a; 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.238dup (p.Leu80fs)	rs1684663586
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)	rs121918631
NM_001165963.4(SCN1A):c.5822C>A (p.Thr1941Lys)	rs756845310

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