ClinVar Miner

List of variants reported as uncertain significance for obsolete Dravet syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.1360-7C>T	rs895077278	0.00001
NM_001365536.1(SCN9A):c.1114C>T (p.Arg372Cys)	rs1234934110	0.00001
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val)	rs1554778420
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del)	rs796053381
NM_001032221.6(STXBP1):c.130TGC[1] (p.Cys45del)	rs2132444621
NM_001032221.6(STXBP1):c.16C>T (p.Leu6Phe)
NM_001032221.6(STXBP1):c.305C>T (p.Ala102Val)	rs1840974440
NM_001032221.6(STXBP1):c.748C>A (p.Gln250Lys)
NM_001127644.2(GABRA1):c.1268C>T (p.Ser423Leu)	rs1581221893
NM_001127644.2(GABRA1):c.197C>A (p.Thr66Asn)	rs2113354062
NM_001127644.2(GABRA1):c.328G>T (p.Val110Phe)
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val)	rs1696653174
NM_001165963.4(SCN1A):c.2915T>G (p.Phe972Cys)	rs2105805621
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)	rs1690574155
NM_001165963.4(SCN1A):c.4338+5G>C	rs796053011
NM_001165963.4(SCN1A):c.5599_5605del (p.Ile1867fs)	rs2105425501
NM_001165963.4(SCN1A):c.603-3C>G

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