ClinVar Miner

List of variants reported as likely 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: 5
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg) rs1889966043
NM_001242896.3(DEPDC5):c.422_423insCTGG (p.Gly142fs) rs1601755632
NM_003042.4(SLC6A1):c.1528-1G>C rs1574924801
NM_003042.4(SLC6A1):c.801del (p.Ile268fs) rs1574906665
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu) rs1588352395

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