ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3083G>T (p.Ser1028Ile) rs1114167617 0.00001
NM_000038.6(APC):c.1240del (p.Arg414fs) rs1554080082
NM_000038.6(APC):c.1626+2T>G rs876658858
NM_000038.6(APC):c.1626+3A>G rs1060503372
NM_000038.6(APC):c.1626G>C (p.Gln542His) rs1580569744
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.6(APC):c.3077A>G (p.Asn1026Ser) rs1114167603
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.423-11A>G rs1580358224
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.835-8A>G rs1064793022

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.