ClinVar Miner

List of variants in gene PLEC reported as pathogenic for Epidermolysis bullosa simplex with pyloric atresia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_000445.4(PLEC):c.2680_2693del (p.Glu894Alafs) rs864309671
NM_000445.5(PLEC):c.1344G>A (p.Ser448=) rs864309672
NM_000445.5(PLEC):c.9085C>T (p.Arg3029Ter) rs137853161
NM_000445.5(PLEC):c.913C>T (p.Gln305Ter) rs137853160

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.