ClinVar Miner

List of variants in gene KCNC1 reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met) rs2133805364
NM_001112741.2(KCNC1):c.1199C>A (p.Thr400Asn)
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818

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