ClinVar Miner

List of variants reported as uncertain significance for colorectal neoplasm by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

Included ClinVar conditions (89):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu) rs41294982 0.00002
NM_000179.3(MSH6):c.3928G>A (p.Glu1310Lys) rs1194990135 0.00001
NM_000179.3(MSH6):c.67G>C (p.Ala23Pro) rs730881810 0.00001
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr) rs772662439 0.00001
NM_000251.3(MSH2):c.742A>G (p.Lys248Glu) rs587779178 0.00001
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser) rs587781294 0.00001
NM_000535.7(PMS2):c.740C>G (p.Pro247Arg) rs1173245928 0.00001
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del) rs587782858
NM_000179.3(MSH6):c.4001+5_4001+6insAGTTA
NM_000249.4(MLH1):c.1285GAG[1] (p.Glu430del) rs1064795262
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000535.7(PMS2):c.817A>G (p.Ile273Val) rs587778621
NM_002354.3(EPCAM):c.527T>C (p.Leu176Pro)

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.