ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy, 13 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (6):

Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13
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
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5
Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly)	rs1057519540
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro)	rs1555228771
NM_001330260.2(SCN8A):c.844_845del (p.Val282fs)

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