List of variants reported as likely benign for Desmoid disease, hereditary; Familial adenomatous polyposis 1

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000038.6(APC):c.2476T>G (p.Leu826Val)	rs145245264	0.00054
NM_000038.6(APC):c.3963C>T (p.Ser1321=)	rs150595875	0.00051
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)	rs146115809	0.00026
NM_000038.6(APC):c.6669A>G (p.Ser2223=)	rs372680843	0.00016
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)	rs200794097	0.00012
NM_000038.6(APC):c.3875C>T (p.Thr1292Met)	rs371113837	0.00011
NM_000038.6(APC):c.573T>C (p.Tyr191=)	rs185154886	0.00008
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)	rs587778046	0.00006
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)	rs201522866	0.00005
NM_000038.6(APC):c.2820G>A (p.Ser940=)	rs780366551	0.00004
NM_000038.6(APC):c.2277C>T (p.Ala759=)	rs762441650	0.00001
NM_000038.6(APC):c.228C>T (p.Asn76=)	rs766325173	0.00001
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)	rs386833391
NM_000038.6(APC):c.3537T>C (p.Tyr1179=)	rs1384420589
NM_000038.6(APC):c.4317T>A (p.Pro1439=)	rs769586752
NM_000038.6(APC):c.7824A>C (p.Ala2608=)

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.