ClinVar Miner

List of variants studied for Desmoid disease, hereditary; Familial adenomatous polyposis 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
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.607C>G (p.Gln203Glu) rs141576417 0.00033
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.6679G>T (p.Gly2227Cys) rs367905430 0.00008
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 0.00007
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.385G>C (p.Glu129Gln) rs376628500 0.00005
NM_000038.6(APC):c.2820G>A (p.Ser940=) rs780366551 0.00004
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000038.6(APC):c.1276G>T (p.Ala426Ser) rs200598389 0.00003
NM_000038.6(APC):c.854A>G (p.Asp285Gly) rs201093383 0.00003
NM_000038.6(APC):c.149A>G (p.Gln50Arg) rs2149783939 0.00001
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.3404A>G (p.Tyr1135Cys) rs754916822 0.00001
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala) rs759441332 0.00001
NM_000038.6(APC):c.5224C>T (p.Arg1742Cys) rs876658835 0.00001
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr) rs752038930 0.00001
NM_000038.6(APC):c.6230C>T (p.Thr2077Ile) rs755022193 0.00001
NC_000005.9:g.(?_112073556)_(112179823_?)del
NM_000038.6(APC):c.*2AG[2] rs758692443
NM_000038.6(APC):c.1354_1355dup (p.Leu453fs) rs1554080698
NM_000038.6(APC):c.1409-2del rs2149808371
NM_000038.6(APC):c.1679A>G (p.Lys560Arg)
NM_000038.6(APC):c.3007G>A (p.Asp1003Asn) rs564314108
NM_000038.6(APC):c.3176A>T (p.Glu1059Val) rs1765352701
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.4192_4193del (p.Arg1399fs) rs2149908617
NM_000038.6(APC):c.423-1_531+199del
NM_000038.6(APC):c.4317T>A (p.Pro1439=) rs769586752
NM_000038.6(APC):c.7223A>T (p.Asn2408Ile)
NM_000038.6(APC):c.7824A>C (p.Ala2608=)
NM_001127511.3(APC):c.166-28468_166-27547del

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.