ClinVar Miner

List of variants reported as pathogenic for adolescent-onset epilepsy syndrome by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_004287.3(GOSR2):c.430G>T rs387906881
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793

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