ClinVar Miner

List of variants reported as likely pathogenic for Endplate acetylcholinesterase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_005677.4(COLQ):c.107-1G>A
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn) rs1008156537
NM_005677.4(COLQ):c.1217G>C (p.Gly406Ala) rs1306593300
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp) rs139574075
NM_005677.4(COLQ):c.1281C>T (p.Cys427=) rs185829251
NM_005677.4(COLQ):c.1298G>A (p.Gly433Glu)
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281

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.