List of variants in gene KCNQ2 reported as pathogenic by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)	rs773171451
NM_172107.4(KCNQ2):c.195_198del (p.Lys66fs)
NM_172107.4(KCNQ2):c.2330_2331dup (p.Glu778fs)
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)	rs796052621
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)	rs886041262
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)	rs74315392
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)	rs794727740
NM_172107.4(KCNQ2):c.829A>G (p.Thr277Ala)
NM_172107.4(KCNQ2):c.835G>A (p.Gly279Ser)
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)	rs1057516099
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr)	rs1600751236

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.