ClinVar Miner

List of variants in gene KCNQ2 reported as likely pathogenic for Early infantile epileptic encephalopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.4(KCNQ2):c.1003C>T (p.Pro335Ser) rs1555869700
NM_172107.4(KCNQ2):c.1218-1G>A rs1568899375
NM_172107.4(KCNQ2):c.2173_2179dup (p.Gly727fs) rs1060500603
NM_172107.4(KCNQ2):c.2278del (p.Arg760fs) rs1555850590
NM_172107.4(KCNQ2):c.515A>G (p.Asp172Gly) rs1555873823
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly) rs1555869758
Single allele

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.