ClinVar Miner

List of variants reported as pathogenic for adolescent-onset epilepsy syndrome by Undiagnosed Diseases Network,NIH

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_001112741.1(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_005506.4(SCARB2):c.367dup (p.Gln123fs) rs1553948516

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