ClinVar Miner

List of variants in gene KCNQ2 reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.*4G>A rs1801508 0.00207
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=) rs148654588 0.00037
NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197 0.00034
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790 0.00031
NM_172107.4(KCNQ2):c.861C>G (p.Thr287=) rs11698044 0.00016
NM_172107.4(KCNQ2):c.2385C>T (p.His795=) rs143016981 0.00015
NM_172107.4(KCNQ2):c.2265C>T (p.Tyr755=) rs563437123 0.00011
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=) rs370174915 0.00011
NM_172107.4(KCNQ2):c.1635C>A (p.Val545=) rs375045009 0.00008
NM_172107.4(KCNQ2):c.2119G>A (p.Ala707Thr) rs543477138 0.00007
NM_172107.4(KCNQ2):c.840C>T (p.Tyr280=) rs201556105 0.00006
NM_172107.4(KCNQ2):c.515-9G>A rs755243604 0.00003
NM_172107.4(KCNQ2):c.1587C>T (p.Thr529=) rs753417293 0.00002
NM_172107.4(KCNQ2):c.2184C>T (p.His728=) rs745409657 0.00001
NM_172107.4(KCNQ2):c.387+10G>A rs371918220 0.00001
NM_172107.4(KCNQ2):c.1118+69C>T rs142571798
NM_172107.4(KCNQ2):c.1320A>G (p.Lys440=)

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.