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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001112741.2(KCNC1):c.1538C>T (p.Ala513Val)	rs1485166517	0.00001
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)	rs1849236683
NM_001112741.2(KCNC1):c.1023C>G (p.Ser341Arg)
NM_001112741.2(KCNC1):c.108del (p.Trp36fs)	rs1590088831
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met)	rs2133805364
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)	rs1554991378
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)
NM_001112741.2(KCNC1):c.1370del (p.Lys457fs)	rs1590106815
NM_001112741.2(KCNC1):c.490C>T (p.Arg164Trp)	rs756544748
NM_001112741.2(KCNC1):c.691A>G (p.Thr231Ala)	rs1565162623

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.