ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Mendelics

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001134407.3(GRIN2A):c.314A>G (p.Asp105Gly) rs797045015
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211
NM_006493.4(CLN5):c.371del (p.Ser124fs) rs794729218
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
NM_018941.3(CLN8):c.[208C>T;792C>G]
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948

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