ClinVar Miner

List of variants reported as likely benign for Lynch syndrome 4; Mismatch repair cancer syndrome 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00012
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215 0.00008
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.1305C>T (p.His435=) rs763954903 0.00001
NM_000535.7(PMS2):c.1455G>A (p.Thr485=) rs752665758 0.00001
NM_000535.7(PMS2):c.1674C>T (p.Thr558=) rs876658134 0.00001
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295 0.00001
NM_000535.7(PMS2):c.795T>C (p.Asn265=) rs766667186 0.00001
NM_000535.7(PMS2):c.1051T>C (p.Leu351=) rs1554298759
NM_000535.7(PMS2):c.1437C>T (p.His479=) rs63750685
NM_000535.7(PMS2):c.1671T>C (p.Asp557=) rs1554297386
NM_000535.7(PMS2):c.2043G>A (p.Gln681=) rs876658953
NM_000535.7(PMS2):c.2583G>A (p.Gln861=)
NM_000535.7(PMS2):c.321G>T (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.468A>T (p.Thr156=) rs1364918195

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.