ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys) rs376042544 0.00012
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00012
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023 0.00009
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211 0.00007
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433 0.00004
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) rs199700509 0.00004
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_000535.7(PMS2):c.107G>A (p.Ser36Asn) rs876661105 0.00001
NM_000535.7(PMS2):c.1084A>G (p.Met362Val) rs876659797 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.403C>G (p.Leu135Val) rs876658423 0.00001
NM_000535.7(PMS2):c.687T>C (p.Ser229=) rs786201508 0.00001
NM_000535.7(PMS2):c.1801T>C (p.Ser601Pro) rs1782975271
NM_000535.7(PMS2):c.2428A>G (p.Arg810Gly) rs1781818536
NM_000535.7(PMS2):c.2438G>A (p.Arg813Gln) rs587782665
NM_000535.7(PMS2):c.2456G>A (p.Gly819Glu)
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061

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.