ClinVar Miner

List of variants in gene APC studied for Carcinoma of colon

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Gene type:
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Total variants: 182
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HGVS dbSNP gnomAD frequency
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.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
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.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.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.4893T>C (p.Ser1631=) rs35634377 0.00268
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.8068G>A (p.Ala2690Thr) rs140868933 0.00146
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.1825G>A (p.Val609Ile) rs147863331 0.00096
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.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041 0.00023
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810 0.00020
NM_000038.6(APC):c.1488A>T (p.Thr496=) rs9282599 0.00019
NM_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247 0.00009
NM_000038.6(APC):c.3786T>C (p.Tyr1262=) rs147411334 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000038.6(APC):c.3624C>T (p.Thr1208=) rs730882125 0.00007
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704 0.00006
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn) rs538230198 0.00006
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.3876G>A (p.Thr1292=) rs377494451 0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe) rs372418435 0.00004
NM_000038.6(APC):c.6135C>T (p.Ser2045=) rs187297940 0.00004
NM_000038.6(APC):c.1904G>C (p.Gly635Ala) rs730881239 0.00003
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000038.6(APC):c.1554G>A (p.Thr518=) rs546568052 0.00002
NM_000038.6(APC):c.7172T>G (p.Ile2391Ser) rs747797803 0.00002
NM_000038.6(APC):c.1121G>A (p.Arg374Gln) rs141582813 0.00001
NM_000038.6(APC):c.1958+5A>G rs762899641 0.00001
NM_000038.6(APC):c.2105G>A (p.Gly702Glu) rs876658289 0.00001
NM_000038.6(APC):c.262C>T (p.Arg88Trp) rs746592911 0.00001
NM_000038.6(APC):c.2909G>A (p.Ser970Asn) rs767473403 0.00001
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082 0.00001
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln) rs201550951 0.00001
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys) rs587779796 0.00001
NM_000038.6(APC):c.5194A>G (p.Met1732Val) rs752065261 0.00001
NM_000038.6(APC):c.5267C>T (p.Ser1756Phe) rs773178712 0.00001
NM_000038.6(APC):c.5901C>T (p.Ser1967=) rs1561603572 0.00001
NM_000038.6(APC):c.7508G>A (p.Gly2503Glu) rs750111908 0.00001
NM_000038.6(APC):c.-2_135+1824del
NM_000038.6(APC):c.-2_136-2903del
NM_000038.6(APC):c.1046_1140del (p.Gln349fs) rs2149780373
NM_000038.6(APC):c.10G>C (p.Ala4Pro) rs774219012
NM_000038.6(APC):c.1259_1269del (p.Cys420fs) rs2149783399
NM_000038.6(APC):c.1312+1G>A rs863225310
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1313-2_1743+144del
NM_000038.6(APC):c.1354_1355dup (p.Leu453fs) rs1554080698
NM_000038.6(APC):c.1370C>A (p.Ser457Ter) rs1060503333
NM_000038.6(APC):c.1374T>C (p.Phe458=) rs2149792451
NM_000038.6(APC):c.1409-2del rs2149808371
NM_000038.6(APC):c.147_150del (p.Lys49fs) rs587781694
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) rs137854580
NM_000038.6(APC):c.1548G>C (p.Lys516Asn) rs879254090
NM_000038.6(APC):c.1592C>G (p.Ala531Gly) rs755879124
NM_000038.6(APC):c.1621C>T (p.Gln541Ter) rs137854572
NM_000038.6(APC):c.1657del (p.Trp553fs) rs1114167594
NM_000038.6(APC):c.1744-2A>G rs587783035
NM_000038.6(APC):c.1744-2_1958+1del rs2149840729
NM_000038.6(APC):c.1744-4C>G rs772745309
NM_000038.6(APC):c.1766_1767dup (p.Ser590Ter) rs1554083122
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.1875_1878del (p.Asn627fs) rs878853420
NM_000038.6(APC):c.1886T>G (p.Leu629Ter) rs1019221239
NM_000038.6(APC):c.1904G>A (p.Gly635Glu) rs730881239
NM_000038.6(APC):c.194del (p.Gln65fs) rs2149784543
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.6(APC):c.1958+1G>A rs1114167569
NM_000038.6(APC):c.1958G>A (p.Arg653Lys) rs1060503318
NM_000038.6(APC):c.1959-2A>G rs876658214
NM_000038.6(APC):c.1993_1994del (p.Leu665fs) rs1580617349
NM_000038.6(APC):c.2031_2034del (p.Ser678fs) rs878853422
NM_000038.6(APC):c.203T>G (p.Leu68Ter) rs1554069549
NM_000038.6(APC):c.2186_2187insGCAGCTT (p.Met730fs) rs1554083998
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.220+3A>G rs1554069573
NM_000038.6(APC):c.220G>T (p.Glu74Ter) rs876658941
NM_000038.6(APC):c.2487del (p.Val830fs) rs2149870772
NM_000038.6(APC):c.2570del (p.Gly857fs) rs876658472
NM_000038.6(APC):c.2612del (p.Gly871fs) rs1554084299
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.2677G>T (p.Glu893Ter) rs199740875
NM_000038.6(APC):c.2789C>T (p.Thr930Ile) rs1580627038
NM_000038.6(APC):c.2802_2805del (p.Tyr935fs) rs1131691143
NM_000038.6(APC):c.2804dup (p.Tyr935Ter) rs863225332
NM_000038.6(APC):c.2819C>T (p.Ser940Leu) rs544709767
NM_000038.6(APC):c.2893_2896del (p.Asn965fs) rs2149879574
NM_000038.6(APC):c.2928_2929del (p.Gly977fs) rs2149880355
NM_000038.6(APC):c.2938A>T (p.Lys980Ter) rs1554084592
NM_000038.6(APC):c.2950G>T (p.Glu984Ter) rs1254176854
NM_000038.6(APC):c.3026del (p.His1009fs) rs2149882615
NM_000038.6(APC):c.3028del (p.Ser1010fs) rs1554084648
NM_000038.6(APC):c.3067dup (p.Thr1023fs) rs876658724
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.6(APC):c.3079del (p.Tyr1027fs) rs863225337
NM_000038.6(APC):c.3114_3115del (p.Gly1039fs) rs1554084698
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3190G>T (p.Glu1064Ter) rs1462312032
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs) rs587779353
NM_000038.6(APC):c.325G>T (p.Glu109Ter) rs1414406816
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.3381G>C (p.Gln1127His) rs1554084977
NM_000038.6(APC):c.3444_3447del (p.Glu1149fs) rs1554085005
NM_000038.6(APC):c.3467_3470del (p.Glu1156fs) rs1554085029
NM_000038.6(APC):c.346_359del (p.Gly116fs) rs1554069805
NM_000038.6(APC):c.3567dup (p.Ser1190fs) rs1554085117
NM_000038.6(APC):c.3682C>T (p.Gln1228Ter) rs1554085227
NM_000038.6(APC):c.3847del (p.Ala1283fs) rs2149900353
NM_000038.6(APC):c.3901dup (p.Thr1301fs) rs1554085382
NM_000038.6(APC):c.3920_3924del (p.Ile1307fs) rs1064794229
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter) rs398123121
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.6(APC):c.4060delinsAA (p.Phe1354fs) rs1554085479
NM_000038.6(APC):c.4138A>G (p.Thr1380Ala) rs2149907365
NM_000038.6(APC):c.4142C>G (p.Pro1381Arg) rs2149907480
NM_000038.6(APC):c.4164_4165del (p.Ser1389fs) rs2149908008
NM_000038.6(APC):c.423-3_531+198del rs2149614301
NM_000038.6(APC):c.423-8A>G rs2149614206
NM_000038.6(APC):c.423G>T (p.Arg141Ser) rs863224458
NM_000038.6(APC):c.4241del (p.Val1414fs) rs1554085659
NM_000038.6(APC):c.4261A>G (p.Ser1421Gly) rs1303200783
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs) rs387906234
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs) rs387906234
NM_000038.6(APC):c.453del (p.Glu152fs) rs863224820
NM_000038.6(APC):c.458del (p.Lys153fs) rs1554071521
NM_000038.6(APC):c.4666dup (p.Thr1556fs) rs587783031
NM_000038.6(APC):c.492_495del (p.Asn164fs) rs1554071590
NM_000038.6(APC):c.4953_4954del (p.Ser1652fs) rs1554086327
NM_000038.6(APC):c.52A>G (p.Met18Val) rs587782402
NM_000038.6(APC):c.532-8G>A rs1060503323
NM_000038.6(APC):c.5931A>G (p.Gln1977=) rs975299630
NM_000038.6(APC):c.594dup (p.Ala199fs) rs1554072616
NM_000038.6(APC):c.5978del (p.Pro1993fs) rs1554087123
NM_000038.6(APC):c.604del (p.Glu202fs) rs2149640346
NM_000038.6(APC):c.6081C>T (p.Leu2027=) rs1316220949
NM_000038.6(APC):c.6135del (p.Ala2046fs) rs1554087239
NM_000038.6(APC):c.620G>A (p.Cys207Tyr) rs1268298845
NM_000038.6(APC):c.6271G>A (p.Gly2091Ser) rs745308565
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.6830C>G (p.Ser2277Cys) rs1554087778
NM_000038.6(APC):c.6893C>T (p.Ala2298Val) rs1554087829
NM_000038.6(APC):c.706C>T (p.Gln236Ter) rs1554074786
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000038.6(APC):c.7838G>A (p.Arg2613Lys) rs1554088693
NM_000038.6(APC):c.7869A>G (p.Thr2623=) rs775126492
NM_000038.6(APC):c.7879T>A (p.Ser2627Thr) rs1580687626
NM_000038.6(APC):c.7942G>T (p.Ala2648Ser) rs1195417407
NM_000038.6(APC):c.834+1G>A rs1554076225
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.893_894del (p.His298fs) rs1114167567
NM_001127511.3(APC):c.166-28469_166-27547del rs2149682237

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