ClinVar Miner

List of variants reported as pathogenic for adolescent-onset epilepsy syndrome by Fulgent Genetics

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NC_012920.1:m.3243A>G rs199474657
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000391.3(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.3(TPP1):c.379C>T (p.Arg127Ter) rs756564767
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.3(TPP1):c.851G>T (p.Gly284Val) rs119455957
NM_001112741.1(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001242896.2(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563
NM_005670.3(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_006493.2(CLN5):c.595C>T (p.Arg199Ter) rs546989392
m.3271T>C rs199474658

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