ClinVar Miner

List of variants in gene LOC114803470, SCN8A studied for seizures, benign familial infantile, 5

Included ClinVar conditions (5):

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, 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=)	rs149013279	0.00196
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser)	rs769269501	0.00001

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