ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy 6B by New York Genome Center

Included ClinVar conditions (6):

Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B
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; Developmental and epileptic encephalopathy 6B
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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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)	rs1260685558	0.00002
NM_001165963.4(SCN1A):c.-142G>A	rs2106003538
NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro)	rs1697679015
NM_001165963.4(SCN1A):c.4234A>G (p.Lys1412Glu)	rs1553524977

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