ClinVar Miner

List of variants reported as likely pathogenic for adolescent-onset epilepsy syndrome by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000391.3(TPP1):c.1344_1345insAGTGGCCGTGCC (p.Ala448_Tyr449insSerGlyArgAla) rs1554901580
NM_000833.4(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_152778.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465

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