ClinVar Miner

List of variants in gene PMS2 reported by University of Washington Department of Laboratory Medicine, University of Washington

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001 0.00203
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000535.7(PMS2):c.24-1474A>G rs183250541 0.00108
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00012
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215 0.00009
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.1398C>T (p.Gly466=) rs752666485 0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_000535.7(PMS2):c.994G>A (p.Val332Ile) rs1236095389 0.00001
NM_000535.5(PMS2):c.904-?_1144+?del
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
NM_000535.7(PMS2):c.1149C>G (p.Asn383Lys) rs1562637166
NM_000535.7(PMS2):c.122A>G (p.Glu41Gly) rs1562701448
NM_000535.7(PMS2):c.1322A>G (p.Glu441Gly) rs1562634610
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1500del (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1533G>T (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.195T>C (p.Leu65=) rs780080040
NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser) rs1562615666
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.250+8G>A rs1057520511
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg) rs747771951
NM_000535.7(PMS2):c.30A>G (p.Glu10=) rs876660608
NM_000535.7(PMS2):c.353G>T (p.Ser118Ile) rs1394474494
NM_000535.7(PMS2):c.475G>C (p.Val159Leu) rs142416537
NM_000535.7(PMS2):c.727G>T (p.Val243Phe) rs867655834
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser) rs869312802

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.