ClinVar Miner

List of variants studied for Colon cancer by 3DMed Clinical Laboratory Inc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807 0.00003
NM_000038.6(APC):c.1803G>C (p.Glu601Asp) rs1447250546 0.00001
NM_006231.4(POLE):c.1396A>G (p.Thr466Ala) rs761765763 0.00001
NM_000038.6(APC):c.2986A>G (p.Ser996Gly) rs1554084628
NM_000038.6(APC):c.3716G>A (p.Arg1239Lys) rs754067085
NM_000038.6(APC):c.5026_5028del (p.Arg1676del) rs768369050
NM_000038.6(APC):c.5478G>C (p.Lys1826Asn) rs768922376
NM_000249.4(MLH1):c.1667+1G>A rs1434898623
NM_000249.4(MLH1):c.497dup (p.Leu166fs) rs587779018
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806
NM_000535.7(PMS2):c.1053del (p.Leu351fs) rs1554298756

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.