List of variants reported as pathogenic for colorectal cancer by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	rs555607708	0.00181
NM_000251.3(MSH2):c.942+3A>T	rs193922376	0.00072
NM_000535.7(PMS2):c.1A>G (p.Met1Val)	rs587779333	0.00004
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	rs63749843	0.00002
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)	rs63750909	0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)	rs63751327	0.00001
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)	rs786201047	0.00001
NM_000038.6(APC):c.1720G>T (p.Glu574Ter)	rs1764024563
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs)	rs730881273
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)	rs63750854
NM_000179.3(MSH6):c.1423C>T (p.Gln475Ter)	rs1553412835
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)	rs587779246
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)	rs63750258
NM_000179.3(MSH6):c.3080dup (p.Ser1028fs)	rs1572730021
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)	rs267608042
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)	rs267608078
NM_000179.3(MSH6):c.3811dup (p.Val1271fs)
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)	rs267608094
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)	rs63750855
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)	rs267607901
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)	rs63750437
NM_000249.4(MLH1):c.791-5T>G	rs267607788
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)	rs63751194
NM_000251.3(MSH2):c.1759+1G>T	rs587779108
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer)	rs63751621
NM_000251.3(MSH2):c.795del (p.Ala266fs)	rs63749902
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)	rs63750828
NM_000251.3:c.(1662+1_1663-1)_(2805+1_?)del
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)	rs201451115
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)	rs587780059
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)	rs587779343

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.