ClinVar Miner

List of variants reported as pathogenic for adolescent-onset epilepsy syndrome by HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.833A>G (p.Gln278Arg) rs796053439

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