ClinVar Miner

List of variants reported as likely benign for adolescent-onset epilepsy syndrome by Counsyl

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_000086.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_000086.2(CLN3):c.963-63_963-44dup rs1555468153
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972
NM_000391.4(TPP1):c.1267-56_1267-37del rs1554901606
NM_006493.2(CLN5):c.61C>T (p.Pro21Ser) rs200353554
NM_018941.3(CLN8):c.507C>T (p.Ser169=) rs386834131

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