ClinVar Miner

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

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_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter) rs758719615
NM_001122752.2(SERPINI1):c.1174G>A (p.Gly392Arg) rs121909054
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014

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