ClinVar Miner

List of variants in gene PMS2 reported as likely benign by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000535.7(PMS2):c.1344A>G (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.2175-11G>T rs538914402
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.7(PMS2):c.2276-10A>G rs573900018
NM_000535.7(PMS2):c.23+10G>C rs192027828
NM_000535.7(PMS2):c.23+6C>T rs779104357
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.7(PMS2):c.353+9A>C rs139990791
NM_000535.7(PMS2):c.354-7C>T rs758471869
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251
NM_000535.7(PMS2):c.705+13G>A rs776790763
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.803+23A>T rs370719706
NM_000535.7(PMS2):c.804-12A>G rs1221537446
NM_000535.7(PMS2):c.903+20_903+21del rs746861817

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.