ClinVar Miner

List of variants reported as pathogenic for adolescent-onset epilepsy syndrome by Center of Genomic medicine, Geneva,University Hospital of Geneva

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_001242897.2(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_005025.4(SERPINI1):c.1174G>A (p.Gly392Arg) rs121909054
NM_005025.4(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053

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