ClinVar Miner

List of variants reported as likely pathogenic for adolescent-onset epilepsy syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_018941.3(CLN8):c.470A>G (p.His157Arg) rs149308952

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