ClinVar Miner

List of variants in gene STXBP1 reported as not provided for obsolete Dravet syndrome

Included ClinVar conditions (19):

Developmental and epileptic encephalopathy, 19
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy, 4; Cerebellar vermis hypoplasia
Developmental and epileptic encephalopathy, 4; Nail-patella syndrome
Developmental and epileptic encephalopathy, 4; West syndrome; Cerebellar vermis hypoplasia
Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epileptic encephalopathy, 19
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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)	rs121918321
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)	rs886041246
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)	rs796053368
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)	rs796053373
NM_001032221.6(STXBP1):c.169+1G>A	rs587776641
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)	rs794727792
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	rs796053353
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001032221.6(STXBP1):c.596C>T (p.Ala199Val)
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)	rs796053359
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)	rs796053361
NM_001032221.6(STXBP1):c.902+1G>A	rs886041978

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.