List of variants reported as benign for colorectal cancer by Pathway Genomics

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: 24

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000251.3(MSH2):c.211+9C>G	rs2303426	0.55454
NM_000251.3(MSH2):c.1661+12G>A	rs3732183	0.40290
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)	rs1805321	0.37107
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)	rs1802683	0.30966
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)	rs3219489	0.26720
NM_000249.4(MLH1):c.655A>G (p.Ile219Val)	rs1799977	0.23048
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)	rs1042821	0.18742
NM_000535.7(PMS2):c.2007-4G>A	rs1805326	0.12350
NM_000251.3(MSH2):c.1511-9A>T	rs12998837	0.09123
NM_000251.3(MSH2):c.2006-6T>C	rs2303428	0.08349
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)	rs10254120	0.07445
NM_000249.4(MLH1):c.1558+14G>A	rs41562513	0.05554
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)	rs2020873	0.02345
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)	rs17217772	0.02317
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)	rs4987188	0.01714
NM_000249.4(MLH1):c.1039-8T>A	rs193922367	0.01153
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)	rs1800146	0.00913
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)	rs63750123	0.00861
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)	rs2020908	0.00565
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)	rs63750447	0.00077
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)	rs63750365	0.00034
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)	rs17420802	0.00025
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)	rs1805325	0.00018
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)	rs41295286	0.00009

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.