List of variants in gene APC reported as benign by ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

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

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000038.6(APC):c.5465T>A (p.Val1822Asp)	rs459552	0.82099
NM_000038.6(APC):c.1635G>A (p.Ala545=)	rs351771	0.59150
NM_000038.6(APC):c.1458T>C (p.Tyr486=)	rs2229992	0.46792
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)	rs72541816	0.00358
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr)	rs139387758	0.00324
NM_000038.6(APC):c.705A>G (p.Leu235=)	rs147036141	0.00213
NM_000038.6(APC):c.2476T>G (p.Leu826Val)	rs145245264	0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)	rs137854567	0.00053
NM_000038.6(APC):c.295C>T (p.Arg99Trp)	rs139196838	0.00048
NM_000038.6(APC):c.1242C>T (p.Arg414=)	rs751423790	0.00004
NM_000038.6(APC):c.1549-13A>T	rs587781267	0.00004
NM_000038.6(APC):c.995G>A (p.Arg332Gln)	rs377665107	0.00004
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)	rs749142480	0.00002
NM_000038.6(APC):c.1746A>G (p.Glu582=)	rs876658969	0.00001
NM_000038.6(APC):c.423-4del	rs730881230
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)	rs587780602
NM_000038.6(APC):c.715G>C (p.Ala239Pro)	rs777760565

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.