ClinVar Miner

List of variants reported as pathogenic for Familial adenomatous polyposis 1 by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000038.5(APC):c.792del (p.Gly265Glufs) rs863224459
NM_000038.6(APC):c.1467_1479del (p.Asn490fs) rs1580565026
NM_000038.6(APC):c.1886T>A (p.Leu629Ter) rs1019221239
NM_000038.6(APC):c.1895_1958+28del rs1561569140
NM_000038.6(APC):c.2334_2337del (p.Asn778fs) rs1580620655
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3374dup (p.Ser1126fs) rs1561584336
NM_000038.6(APC):c.4203dup (p.Ala1402fs) rs1580645285
NM_000038.6(APC):c.4501del (p.Ser1501fs) rs1580648975
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568

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.