ClinVar Miner

List of variants reported as likely pathogenic for adolescent-onset epilepsy syndrome by Integrated Genetics/Laboratory Corporation of America

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.1000C>T (p.Arg334Cys) rs386833694
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980
NM_006493.4(CLN5):c.775_776AT[1] (p.Phe260fs) rs786204644

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