ClinVar Miner

List of variants in gene PPT1 reported as likely benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000310.3(PPT1):c.124+10_124+13delTGAG rs768863525
NM_000310.3(PPT1):c.225C>T (p.Thr75=) rs1477732757
NM_000310.3(PPT1):c.627+9C>T rs368895182
NM_000310.3(PPT1):c.651A>G (p.Lys217=) rs1553166517
NM_000310.3(PPT1):c.810G>A (p.Gly270=) rs371213189
NM_000310.3(PPT1):c.810G>C (p.Gly270=) rs371213189
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902

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