ClinVar Miner

List of variants studied 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: 19
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HGVS dbSNP
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.790+532_1056+1445del
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) rs137852696
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) rs121908195
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter) rs869312751
NM_006493.4(CLN5):c.775_776AT[1] (p.Phe260fs) rs786204644

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