ClinVar Miner

List of variants studied for benign familial infantile epilepsy by Genome-Nilou Lab

Included ClinVar conditions (18):

Autism; Seizures, benign familial infantile, 3; Episodic ataxia, type 9; Developmental and epileptic encephalopathy, 76
Benign familial infantile epilepsy
Benign familial neonatal-infantile seizures 1; Developmental and epileptic encephalopathy, 11; Intellectual disability
Benign familial neonatal-infantile seizures 1; Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; SCN2A-related generalized epilepsy with febrile seizures plus
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2
Seizures, benign familial infantile, 2
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis
Seizures, benign familial infantile, 3
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9; Complex neurodevelopmental disorder
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 1; Autism spectrum disorder; SCN2A-related generalized epilepsy with febrile seizures plus; West syndrome; Myoclonic-astatic epilepsy; Non-syndromic intellectual disability; Lennox-Gastaut syndrome; Continuous spikes and waves during sleep
Seizures, benign familial infantile, 3; SCN2A-related generalized epilepsy with febrile seizures plus
Seizures, benign familial infantile, 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_145239.3(PRRT2):c.751T>C (p.Leu251=)	rs11150573	0.99277
NM_001330260.2(SCN8A):c.4796-38C>A	rs303828	0.86075
NM_001040142.2(SCN2A):c.268-28A>G	rs7593568	0.82099
NM_001040142.2(SCN2A):c.1671+49A>G	rs1838846	0.82025
NM_001040142.2(SCN2A):c.1035-3T>C	rs2121371	0.82016
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)	rs4761829	0.81114
NM_001330260.2(SCN8A):c.1135-48C>T	rs2291265	0.78368
NM_001330260.2(SCN8A):c.3490+20G>A	rs303808	0.76481
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)	rs303815	0.62374
NM_001040142.2(SCN2A):c.1672-16C>T	rs1867864	0.56164
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=)	rs2060198	0.25169
NM_001040142.2(SCN2A):c.4255-31A>G	rs1864885	0.20300
NM_001330260.2(SCN8A):c.2371-32A>C	rs303767
NM_001330260.2(SCN8A):c.2545-7dup	rs56879517
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)	rs60637

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