ClinVar Miner

List of variants in gene PMS1 studied for colorectal neoplasm

Included ClinVar conditions (84):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000534.5(PMS1):c.1643A>G (p.Lys548Arg) rs61736576 0.00477
NM_000534.5(PMS1):c.2766del (p.His923fs) rs2057666079
NM_000534.5(PMS1):c.440G>A (p.Arg147Lys) rs113137368

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.