ClinVar Miner

List of variants in gene APC studied for connective and soft tissue neoplasm

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 110
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.4479G>A (p.Thr1493=) rs41115 0.59177
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883 0.00056
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836 0.00021
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00015
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000038.6(APC):c.573T>C (p.Tyr191=) rs185154886 0.00008
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_000038.6(APC):c.1193A>G (p.Lys398Arg) rs145912662 0.00006
NM_000038.6(APC):c.2719G>C (p.Gly907Arg) rs771458366 0.00006
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000038.6(APC):c.1242C>T (p.Arg414=) rs751423790 0.00004
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.5894A>C (p.His1965Pro) rs773776516 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe) rs72541815 0.00004
NM_000038.6(APC):c.776G>A (p.Arg259Gln) rs767457050 0.00004
NM_001127511.3(APC):c.-167G>A rs1278244063 0.00004
NM_000038.6(APC):c.1241G>A (p.Arg414His) rs730881233 0.00003
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000038.6(APC):c.7808A>G (p.Glu2603Gly) rs587779807 0.00003
NM_000038.6(APC):c.791A>G (p.Gln264Arg) rs369345931 0.00003
NM_000038.6(APC):c.854A>G (p.Asp285Gly) rs201093383 0.00003
NM_001127511.3(APC):c.-32C>T rs1015952631 0.00003
NM_001127511.3(APC):c.-88T>G rs531931776 0.00003
NM_001127511.3(APC):c.1A>G (p.Met1Val) rs189807660 0.00003
NM_000038.6(APC):c.1538T>C (p.Val513Ala) rs876658167 0.00002
NM_000038.6(APC):c.3661C>T (p.Pro1221Ser) rs760999992 0.00002
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg) rs764706774 0.00002
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser) rs749142480 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser) rs377308875 0.00002
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) rs779287035 0.00002
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly) rs767286063 0.00002
NM_000038.6(APC):c.2114G>A (p.Ser705Asn) rs752874220 0.00001
NM_000038.6(APC):c.212G>A (p.Arg71His) rs750503329 0.00001
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437 0.00001
NM_000038.6(APC):c.3149del (p.Ala1050fs) rs730882135 0.00001
NM_000038.6(APC):c.3515A>T (p.His1172Leu) rs1024630299 0.00001
NM_000038.6(APC):c.4430A>G (p.Gln1477Arg) rs1479009365 0.00001
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala) rs759441332 0.00001
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526 0.00001
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr) rs752038930 0.00001
NM_000038.6(APC):c.5615T>A (p.Val1872Asp) rs748389037 0.00001
NM_000038.6(APC):c.5627G>T (p.Arg1876Met) rs773201570 0.00001
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935 0.00001
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096 0.00001
NM_000038.6(APC):c.7136C>G (p.Thr2379Ser) rs767691072 0.00001
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470 0.00001
NM_000038.6(APC):c.8282C>T (p.Pro2761Leu) rs757874563 0.00001
APC, 1-BP DEL, 3720T
APC, 2-BP INS, CODON 1924
APC, 4-BP DEL, 7929TCTA
NM_000038.5(APC):c.4575_4576insAlu1
NM_000038.6(APC):c.-2_136-2903del
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1333C>G (p.Gln445Glu) rs876658802
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.1820G>C (p.Cys607Ser) rs1554083153
NM_000038.6(APC):c.2160G>A (p.Met720Ile) rs1283428855
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.245T>C (p.Phe82Ser) rs1179254201
NM_000038.6(APC):c.2573T>C (p.Ile858Thr) rs1765215022
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3263A>C (p.Lys1088Thr) rs1580633119
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser) rs372855304
NM_000038.6(APC):c.3490A>G (p.Ile1164Val) rs1554085052
NM_000038.6(APC):c.3692_3693insA (p.His1232fs) rs1765495276
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) rs1554085355
NM_000038.6(APC):c.3901dup (p.Thr1301fs) rs1554085382
NM_000038.6(APC):c.422+10C>G rs899376835
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.423-4dup rs730881230
NM_000038.6(APC):c.4332A>T (p.Gln1444His) rs748342378
NM_000038.6(APC):c.4473dup (p.Ala1492fs) rs398123122
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs) rs387906236
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs) rs1561594148
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.6(APC):c.4987G>A (p.Glu1663Lys) rs758987855
NM_000038.6(APC):c.5011G>A (p.Ala1671Thr) rs587781600
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=) rs1554086584
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.6218G>A (p.Gly2073Asp) rs1766164614
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.6727A>G (p.Thr2243Ala) rs773539706
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys) rs1561612604
NM_000038.6(APC):c.7403C>T (p.Ser2468Leu)
NM_000038.6(APC):c.74_75del (p.Gln25fs) rs1554067124
NM_000038.6(APC):c.7757G>T (p.Ser2586Ile) rs199806334
NM_000038.6(APC):c.7946C>T (p.Pro2649Leu) rs1766608503
NM_000038.6(APC):c.813G>A (p.Met271Ile) rs1064793903
NM_000038.6(APC):c.8281C>T (p.Pro2761Ser) rs1060503332
NM_000038.6(APC):c.835-17A>G rs1580511131
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.933+1G>A rs876660765
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020
NM_001127511.3(APC):c.-128G>C rs543098847
NM_001127511.3(APC):c.-142G>A rs951500465

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.