ClinVar Miner

List of variants reported as pathogenic for adolescent-onset epilepsy syndrome by Department of Genetics,Sultan Qaboos University Hospital, Oman

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr) rs1566219136
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) rs1381427322
NM_153033.4(KCTD7):c.335G>A (p.Arg112His) rs774026720
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542

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