ClinVar Miner

List of variants in gene APC reported by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 221
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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.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.136-53T>C rs2304793 0.07347
NM_000038.6(APC):c.645+32C>T rs2909961 0.06662
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_000038.6(APC):c.220+124C>G rs76552546 0.01839
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.730-29A>T rs75083764 0.01144
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_000038.6(APC):c.645+61C>T rs56328836 0.01110
NM_000038.6(APC):c.1627-93A>C rs115157960 0.00999
NM_000038.6(APC):c.1312+27G>A rs74975092 0.00973
NM_000038.6(APC):c.422+75T>C rs112114081 0.00876
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.933+30A>G rs145211300 0.00412
NM_000038.6(APC):c.729+23T>C rs75111475 0.00381
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
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.705A>G (p.Leu235=) rs147036141 0.00213
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.423-17T>A rs534684461 0.00114
NM_000038.6(APC):c.423-16A>T rs78919815 0.00101
NM_000038.6(APC):c.835-24A>T rs200399868 0.00091
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883 0.00056
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
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.730-22G>C rs115634618 0.00037
NM_000038.6(APC):c.221-29G>C rs369645686 0.00025
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) rs150882838 0.00017
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.95A>G (p.Asn32Ser) rs539108537 0.00009
NM_000038.6(APC):c.4212C>A (p.Ser1404=) rs144655979 0.00008
NM_000038.6(APC):c.729+31A>G rs374626709 0.00007
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756 0.00006
NM_000038.6(APC):c.3876G>A (p.Thr1292=) rs377494451 0.00004
NM_000038.6(APC):c.1627-10T>G rs863224538 0.00003
NM_000038.6(APC):c.477C>T (p.Tyr159=) rs863224281 0.00003
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly) rs767286063 0.00002
NM_000038.6(APC):c.8199A>G (p.Gln2733=) rs372365378 0.00002
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000038.6(APC):c.1243G>A (p.Ala415Thr) rs756336949 0.00001
NM_000038.6(APC):c.1310C>G (p.Pro437Arg) rs762936223 0.00001
NM_000038.6(APC):c.136-18T>C rs1261769588 0.00001
NM_000038.6(APC):c.1629T>C (p.Val543=) rs779848042 0.00001
NM_000038.6(APC):c.1867C>T (p.Arg623Trp) rs730881238 0.00001
NM_000038.6(APC):c.268A>G (p.Lys90Glu) rs763184444 0.00001
NM_000038.6(APC):c.3218C>T (p.Thr1073Ile) rs773354366 0.00001
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu) rs149828124 0.00001
NM_000038.6(APC):c.5952T>C (p.Asn1984=) rs142019870 0.00001
NM_000038.6(APC):c.6658A>G (p.Asn2220Asp) rs374464049 0.00001
NM_000038.5(APC):c.1409-?_1743+?del
NM_000038.5(APC):c.1744-?_1958+?del (p.(?))
NM_000038.5(APC):c.423-?_531+?del (p.(?))
NM_000038.6(APC):c.1045C>T (p.Gln349Ter) rs863225307
NM_000038.6(APC):c.1229dup (p.Leu410fs) rs863225308
NM_000038.6(APC):c.1297C>T (p.Gln433Ter) rs863225309
NM_000038.6(APC):c.1312+1G>A rs863225310
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.135+2T>C rs1554067164
NM_000038.6(APC):c.1408+27A>G rs863225312
NM_000038.6(APC):c.1409-1G>T rs863225313
NM_000038.6(APC):c.1433T>G (p.Leu478Ter) rs863225314
NM_000038.6(APC):c.1494del (p.Arg498fs) rs1554081719
NM_000038.6(APC):c.1500T>A (p.Tyr500Ter) rs387906230
NM_000038.6(APC):c.1525_1527del (p.Thr509del) rs863225315
NM_000038.6(APC):c.1549-1G>A rs863225316
NM_000038.6(APC):c.1609del (p.Ser537fs) rs863225317
NM_000038.6(APC):c.1626+1G>A rs1554081934
NM_000038.6(APC):c.1658G>A (p.Trp553Ter) rs863225318
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
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.1879_1882del (p.Asn627fs) rs1060503360
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs) rs863225319
NM_000038.6(APC):c.193C>A (p.Gln65Lys) rs863225320
NM_000038.6(APC):c.1959-1G>A rs863225321
NM_000038.6(APC):c.1972_1975del (p.Glu658fs) rs863225322
NM_000038.6(APC):c.1997_1999delinsA (p.Leu666_Gln667delinsTer) rs863225323
NM_000038.6(APC):c.2060T>G (p.Leu687Arg) rs863225324
NM_000038.6(APC):c.207del (p.Glu70fs) rs863225325
NM_000038.6(APC):c.2170dup (p.Ala724fs) rs1554083984
NM_000038.6(APC):c.2183del (p.Asn728fs) rs863225326
NM_000038.6(APC):c.2186del (p.Leu729fs) rs2149862736
NM_000038.6(APC):c.220+28A>G rs200746873
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.221-1G>A rs863225327
NM_000038.6(APC):c.2260del (p.Val754fs) rs2149864798
NM_000038.6(APC):c.2325del (p.Asn775fs) rs863225328
NM_000038.6(APC):c.2343del (p.Lys782fs) rs1554084080
NM_000038.6(APC):c.244T>A (p.Phe82Ile) rs863225329
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2624dup (p.Arg876fs) rs863225330
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.2759del (p.Asn920fs) rs863225331
NM_000038.6(APC):c.2804dup (p.Tyr935Ter) rs863225332
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2805C>G (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2806_2813dup (p.Lys939fs) rs863225333
NM_000038.6(APC):c.2825del (p.Asn942fs) rs1554084511
NM_000038.6(APC):c.2886del (p.Asp962fs) rs863225334
NM_000038.6(APC):c.288T>G (p.Tyr96Ter) rs376213437
NM_000038.6(APC):c.2926dup (p.Arg976fs) rs1554084587
NM_000038.6(APC):c.301G>T (p.Gly101Ter) rs863225335
NM_000038.6(APC):c.3054_3063del (p.Asp1018fs) rs863225336
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.6(APC):c.3079dup (p.Tyr1027fs) rs863225337
NM_000038.6(APC):c.3125del (p.Ser1042fs) rs863225338
NM_000038.6(APC):c.3133C>T (p.Gln1045Ter) rs2149885099
NM_000038.6(APC):c.3135_3136del (p.Gln1045_Asn1046insTer) rs863225339
NM_000038.6(APC):c.3139G>T (p.Glu1047Ter) rs568149455
NM_000038.6(APC):c.3147G>A (p.Trp1049Ter) rs863225340
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs) rs587779353
NM_000038.6(APC):c.3264del (p.Lys1088fs) rs1554084885
NM_000038.6(APC):c.3286C>T (p.Gln1096Ter) rs587783029
NM_000038.6(APC):c.3298_3301del (p.Ser1100fs) rs863225341
NM_000038.6(APC):c.3304_3307del (p.Tyr1102fs) rs863225342
NM_000038.6(APC):c.3429T>C (p.Tyr1143=) rs1554084999
NM_000038.6(APC):c.3473_3474dup (p.Pro1159fs) rs786203020
NM_000038.6(APC):c.3527del (p.Pro1176fs) rs1554085084
NM_000038.6(APC):c.3535dup (p.Tyr1179fs) rs863225343
NM_000038.6(APC):c.3571C>T (p.Gln1191Ter) rs1114167547
NM_000038.6(APC):c.3577C>T (p.Gln1193Ter) rs1554085128
NM_000038.6(APC):c.3578del (p.Gln1193fs) rs1554085131
NM_000038.6(APC):c.3602C>A (p.Ser1201Ter) rs730881247
NM_000038.6(APC):c.3670_3671dup (p.Asn1224fs) rs1561586671
NM_000038.6(APC):c.3688C>T (p.Gln1230Ter) rs863225344
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.3791dup (p.Glu1265fs) rs863225346
NM_000038.6(APC):c.3807_3808del (p.Ile1269fs) rs786203760
NM_000038.6(APC):c.3810T>A (p.Cys1270Ter) rs863225347
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.6(APC):c.3827C>G (p.Ser1276Ter) rs1060503299
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3937A>G (p.Thr1313Ala) rs863225349
NM_000038.6(APC):c.3939_3940dup (p.Arg1314fs) rs863225350
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter) rs398123121
NM_000038.6(APC):c.4025dup (p.Leu1342fs) rs863225351
NM_000038.6(APC):c.4075A>T (p.Lys1359Ter) rs863225352
NM_000038.6(APC):c.4166del (p.Ser1389fs) rs863225353
NM_000038.6(APC):c.4222G>A (p.Glu1408Lys) rs1554085632
NM_000038.6(APC):c.423-1G>C rs397514031
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4354G>T (p.Val1452Leu) rs1172454959
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs) rs387906234
NM_000038.6(APC):c.4495G>T (p.Gly1499Ter) rs756912930
NM_000038.6(APC):c.450_453del (p.Glu151fs) rs863225355
NM_000038.6(APC):c.453del (p.Glu152fs) rs863224820
NM_000038.6(APC):c.4616C>A (p.Ser1539Ter) rs1554086008
NM_000038.6(APC):c.4634C>G (p.Ser1545Ter) rs863225356
NM_000038.6(APC):c.4645C>T (p.Gln1549Ter) rs863225357
NM_000038.6(APC):c.4647del (p.Glu1550fs) rs879254283
NM_000038.6(APC):c.4652_4655del (p.Lys1551fs) rs863225358
NM_000038.6(APC):c.4655_4656del (p.Glu1552fs) rs1765732008
NM_000038.6(APC):c.4666dup (p.Thr1556fs) rs587783031
NM_000038.6(APC):c.471G>A (p.Trp157Ter) rs1060503328
NM_000038.6(APC):c.4733_4734del (p.Cys1578fs) rs863225359
NM_000038.6(APC):c.4748_4752del (p.Met1583fs) rs863225360
NM_000038.6(APC):c.475dup (p.Tyr159fs) rs863225361
NM_000038.6(APC):c.4761A>G (p.Ser1587=) rs863224280
NM_000038.6(APC):c.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.477C>G (p.Tyr159Ter) rs863224281
NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs) rs886039641
NM_000038.6(APC):c.487C>T (p.Gln163Ter) rs863225362
NM_000038.6(APC):c.5005_5008del (p.Ala1670fs) rs1554086363
NM_000038.6(APC):c.509_512del (p.Asp170fs) rs387906231
NM_000038.6(APC):c.5145del (p.Asp1715fs) rs863225363
NM_000038.6(APC):c.524_531+4del rs863225364
NM_000038.6(APC):c.531+1G>C rs876659973
NM_000038.6(APC):c.531+2T>A rs863225365
NM_000038.6(APC):c.531+2T>C rs863225365
NM_000038.6(APC):c.541C>T (p.Gln181Ter) rs863225366
NM_000038.6(APC):c.5804dup (p.Ser1936fs) rs863225367
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) rs587781330
NM_000038.6(APC):c.5936del (p.Asn1979fs) rs863225368
NM_000038.6(APC):c.5996del (p.Pro1999fs) rs863225369
NM_000038.6(APC):c.6281_6282del (p.Pro2094fs) rs1554087314
NM_000038.6(APC):c.635_636dup (p.Arg213fs) rs1561485947
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.645+1G>A rs863225370
NM_000038.6(APC):c.6565A>C (p.Lys2189Gln) rs1554087525
NM_000038.6(APC):c.677del (p.Lys226fs) rs863225371
NM_000038.6(APC):c.6814A>G (p.Arg2272Gly) rs1561610453
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.7264A>T (p.Thr2422Ser) rs730881260
NM_000038.6(APC):c.7270_7273del (p.Ser2424fs) rs1469278346
NM_000038.6(APC):c.734C>A (p.Ser245Ter) rs1554076133
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.6(APC):c.7726G>A (p.Ala2576Thr) rs1554088617
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000038.6(APC):c.800del (p.Gly267fs) rs863225372
NM_000038.6(APC):c.832C>T (p.Gln278Ter) rs1554076217
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.934G>A (p.Val312Met) rs1060503285
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020

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