ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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NM_000310.3(PPT1):c.133T>C (p.Cys45Arg) rs878853323
NM_000310.3(PPT1):c.532delG (p.Glu178Asnfs) rs878853325
NM_000310.3(PPT1):c.707T>A (p.Val236Glu) rs878853324
NM_000310.3(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser) rs864309505
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) rs1057516264
NM_000391.4(TPP1):c.184del (p.Ser62fs) rs1554902217
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser) rs869025274
NM_000391.4(TPP1):c.457_490del (p.Ser153fs) rs878855331
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter) rs553522118
NM_000391.4(TPP1):c.689del (p.Phe230fs) rs1554901898
NM_152778.3(MFSD8):c.268G>C (p.Ala90Pro) rs1553950970
NM_152778.3(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_153033.4(KCTD7):c.302G>A (p.Gly101Asp) rs1554397831

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