ClinVar Miner

List of variants reported as pathogenic for childhood-onset epilepsy syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001271.4(CHD2):c.3780dup (p.Trp1261fs) rs2054200651
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469

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