ClinVar Miner

List of variants in gene APC reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000038.6(APC):c.1408+743G>A rs2545162 0.60798
NM_000038.6(APC):c.5034G>A (p.Gly1678=) rs42427 0.59504
NM_000038.6(APC):c.5880G>A (p.Pro1960=) rs465899 0.59308
NM_000038.6(APC):c.5268T>G (p.Ser1756=) rs866006 0.59230
NM_000038.6(APC):c.4479G>A (p.Thr1493=) rs41115 0.59177
NM_000038.6(APC):c.1635G>A (p.Ala545=) rs351771 0.59150
NM_000038.6(APC):c.-19+734C>T rs2020383 0.51721
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_000038.6(APC):c.-19+647A>G rs2019720 0.38718
NM_001127511.3(APC):c.-31T>G rs78429131 0.09154
NM_000038.6(APC):c.645+32C>T rs2909961 0.06662
NM_001354897.2(APC):c.-245A>C rs75580617 0.04642
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081 0.01174
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116 0.01170
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_000038.6(APC):c.1312+27G>A rs74975092 0.00973
NM_001127511.3(APC):c.78C>A (p.Ser26Arg) rs113782655 0.00928
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000038.6(APC):c.1958+8T>C rs62626346 0.00510
NM_000038.6(APC):c.532-32T>C rs112108777 0.00505
NM_000038.6(APC):c.5250C>G (p.Val1750=) rs2229997 0.00497
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
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.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_000038.6(APC):c.3264G>A (p.Lys1088=) rs114774495 0.00255
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000038.6(APC):c.-19+512G>A rs550306841 0.00176
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 0.00161
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000038.6(APC):c.5790A>G (p.Gln1930=) rs141152252 0.00097
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_000038.6(APC):c.8043G>C (p.Pro2681=) rs149347068 0.00092
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00031
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810 0.00020
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843 0.00016
NM_000038.6(APC):c.1548+17T>C rs367690523 0.00013
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000038.6(APC):c.-19+509G>A rs745770540 0.00008
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000038.6(APC):c.721G>A (p.Glu241Lys) rs777603154 0.00008
NM_000038.6(APC):c.789T>A (p.Gly263=) rs767053295 0.00006
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866 0.00005
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg) rs779898882 0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe) rs372418435 0.00004
NM_000038.6(APC):c.7594C>T (p.His2532Tyr) rs375080917 0.00004
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162 0.00004
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_001127511.3(APC):c.1A>G (p.Met1Val) rs189807660 0.00003
NM_000038.6(APC):c.729+15T>C rs746211944 0.00002
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000038.6(APC):c.3220A>G (p.Thr1074Ala) rs962456431 0.00001
NM_000038.6(APC):c.3279T>G (p.Phe1093Leu) rs199539973 0.00001
NM_000038.6(APC):c.532T>A (p.Phe178Ile) rs1060503344 0.00001
NM_000038.6(APC):c.5541G>A (p.Thr1847=) rs777449060 0.00001
NM_000038.6(APC):c.6700C>T (p.Pro2234Ser) rs749507584 0.00001
NM_000038.6(APC):c.7143A>C (p.Gln2381His) rs756153152 0.00001
NM_000038.6(APC):c.-18-13T>G rs1554067089
NM_000038.6(APC):c.1229dup (p.Leu410fs) rs863225308
NM_000038.6(APC):c.135+2T>C rs1554067164
NM_000038.6(APC):c.1370C>G (p.Ser457Ter) rs1060503333
NM_000038.6(APC):c.1512T>C (p.Ala504=) rs1561554267
NM_000038.6(APC):c.1626+3A>G rs1060503372
NM_000038.6(APC):c.1825del (p.Ala608_Val609insTer) rs2149842095
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.1937T>G (p.Ile646Arg) rs1554083243
NM_000038.6(APC):c.2162del (p.Gly721fs) rs2149862015
NM_000038.6(APC):c.2408C>G (p.Thr803Ser) rs587780591
NM_000038.6(APC):c.2485del (p.Thr829fs) rs1561577476
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2589C>A (p.Tyr863Ter) rs1561578229
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.2651C>T (p.Ala884Val) rs750217875
NM_000038.6(APC):c.2739T>C (p.His913=) rs553363502
NM_000038.6(APC):c.3117A>C (p.Gly1039=) rs1580631098
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.6(APC):c.3146G>A (p.Trp1049Ter) rs876658667
NM_000038.6(APC):c.3196del (p.Arg1066fs) rs878853436
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter) rs1554085081
NM_000038.6(APC):c.3786T>G (p.Tyr1262Ter) rs147411334
NM_000038.6(APC):c.3817A>T (p.Arg1273Ter) rs2149899615
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs) rs1561594148
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.476_488del (p.Tyr158_Tyr159insTer) rs2149615315
NM_000038.6(APC):c.509_512del (p.Asp170fs) rs387906231
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=) rs1554086584
NM_000038.6(APC):c.532-1G>A rs1554072547
NM_000038.6(APC):c.5572C>T (p.Arg1858Ter) rs1270783041
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.5839A>C (p.Thr1947Pro) rs746346292
NM_000038.6(APC):c.6248T>C (p.Ile2083Thr) rs758715972
NM_000038.6(APC):c.6281_6282del (p.Pro2094fs) rs1554087314
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.6900T>C (p.Ser2300=) rs202012533
NM_000038.6(APC):c.7794C>G (p.Thr2598=) rs1554088662
NM_000038.6(APC):c.834+1G>A rs1554076225
NM_000038.6(APC):c.8465G>C (p.Ser2822Thr) rs1421264825
NM_000038.6(APC):c.8466C>A (p.Ser2822Arg) rs1561623566
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_001127511.3(APC):c.-126dup rs565045828
NM_001127511.3(APC):c.166-28523C>T

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