ClinVar Miner

List of variants reported as likely pathogenic for adolescent-onset epilepsy syndrome by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000748.2(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396
NM_002087.3(GRN):c.1438C>T (p.His480Tyr) rs770058074
NM_017882.2(CLN6):c.297+113G>C rs553192210
NM_017882.2(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_019595.3(ITSN2):c.4127A>G (p.Asp1376Gly) rs1553340826

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