ClinVar Miner

List of variants studied for autosomal dominant nocturnal frontal lobe epilepsy 5 by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (2):

Autosomal dominant nocturnal frontal lobe epilepsy 5
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5

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

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln)	rs1554771469

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