ClinVar Miner

List of variants in gene SERPINI1 reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_005025.4(SERPINI1):c.1013A>G (p.His338Arg) rs121909052
NM_005025.4(SERPINI1):c.1174G>A (p.Gly392Arg) rs121909054
NM_005025.4(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053
NM_005025.4(SERPINI1):c.145T>C (p.Ser49Pro) rs121909051
NM_005025.4(SERPINI1):c.154A>C (p.Ser52Arg)

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