ClinVar Miner

List of variants in gene APC reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000038.6(APC):c.1867C>T (p.Arg623Trp) rs730881238 0.00001
NM_000038.6(APC):c.1045C>T (p.Gln349Ter) rs863225307
NM_000038.6(APC):c.1229dup (p.Leu410fs) rs863225308
NM_000038.6(APC):c.1240del (p.Arg414fs) rs1554080082
NM_000038.6(APC):c.1246dup (p.Tyr416fs) rs1060503366
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1312+5G>C rs886039507
NM_000038.6(APC):c.135+1G>T rs750508765
NM_000038.6(APC):c.135+2T>C rs1554067164
NM_000038.6(APC):c.1354_1355dup (p.Leu453fs) rs1554080698
NM_000038.6(APC):c.1377_1383del (p.Glu460fs) rs1554080716
NM_000038.6(APC):c.1409-6A>G rs886039508
NM_000038.6(APC):c.1433T>G (p.Leu478Ter) rs863225314
NM_000038.6(APC):c.1494del (p.Arg498fs) rs1554081719
NM_000038.6(APC):c.1522_1523del (p.Leu508fs) rs886039509
NM_000038.6(APC):c.1525_1527del (p.Thr509del) rs863225315
NM_000038.6(APC):c.1548+2T>C rs1057517561
NM_000038.6(APC):c.1548+3_1548+4del rs886039510
NM_000038.6(APC):c.1549-1G>A rs863225316
NM_000038.6(APC):c.1594C>T (p.Gln532Ter) rs1554081901
NM_000038.6(APC):c.1609del (p.Ser537fs) rs863225317
NM_000038.6(APC):c.1626+1G>A rs1554081934
NM_000038.6(APC):c.1626_1626+6del rs1554081930
NM_000038.6(APC):c.1643dup (p.Leu548fs) rs1554082091
NM_000038.6(APC):c.1715T>A (p.Leu572Ter) rs886039511
NM_000038.6(APC):c.1743+1G>A rs761458613
NM_000038.6(APC):c.1743G>C (p.Lys581Asn) rs1114167592
NM_000038.6(APC):c.1744-2A>T rs587783035
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs) rs863225319
NM_000038.6(APC):c.1951dup (p.Asp651fs) rs1554083255
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.6(APC):c.1958+3A>T rs879254032
NM_000038.6(APC):c.1997_1999delinsA (p.Leu666_Gln667delinsTer) rs863225323
NM_000038.6(APC):c.207del (p.Glu70fs) rs863225325
NM_000038.6(APC):c.2183del (p.Asn728fs) rs863225326
NM_000038.6(APC):c.2186del (p.Leu729fs) rs2149862736
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.220G>T (p.Glu74Ter) rs876658941
NM_000038.6(APC):c.2260del (p.Val754fs) rs2149864798
NM_000038.6(APC):c.2343del (p.Lys782fs) rs1554084080
NM_000038.6(APC):c.2454del (p.Asn818fs) rs2149869903
NM_000038.6(APC):c.2624dup (p.Arg876fs) rs863225330
NM_000038.6(APC):c.2736del (p.Leu912fs)
NM_000038.6(APC):c.2759del (p.Asn920fs) rs863225331
NM_000038.6(APC):c.2825del (p.Asn942fs) rs1554084511
NM_000038.6(APC):c.2886del (p.Asp962fs) rs863225334
NM_000038.6(APC):c.2926dup (p.Arg976fs) rs1554084587
NM_000038.6(APC):c.2939_2940del (p.Lys980fs) rs1580629061
NM_000038.6(APC):c.298del (p.Glu100fs) rs1064794224
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.3079dup (p.Tyr1027fs) rs863225337
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
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.3283C>T (p.Gln1095Ter) rs2149888710
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.3535dup (p.Tyr1179fs) rs863225343
NM_000038.6(APC):c.3569C>A (p.Ser1190Ter) rs886039618
NM_000038.6(APC):c.3578del (p.Gln1193fs) rs1554085131
NM_000038.6(APC):c.3602C>A (p.Ser1201Ter) rs730881247
NM_000038.6(APC):c.3607G>T (p.Gly1203Ter) rs1057518472
NM_000038.6(APC):c.3625G>T (p.Glu1209Ter)
NM_000038.6(APC):c.3670_3671dup (p.Asn1224fs) rs1561586671
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.3791dup (p.Glu1265fs) rs863225346
NM_000038.6(APC):c.3793_3794insCTT (p.Glu1265delinsAlaTer) rs1580640215
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.6(APC):c.3921_3924del (p.Ile1307fs) rs863224457
NM_000038.6(APC):c.3939_3940dup (p.Arg1314fs) rs863225350
NM_000038.6(APC):c.4075A>T (p.Lys1359Ter) rs863225352
NM_000038.6(APC):c.4120G>T (p.Glu1374Ter)
NM_000038.6(APC):c.4166del (p.Ser1389fs) rs863225353
NM_000038.6(APC):c.4219_4220del (p.Gln1406_Ser1407insTer)
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.4260dup (p.Ser1421fs) rs1554085679
NM_000038.6(APC):c.4495G>T (p.Gly1499Ter) rs756912930
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.4647del (p.Glu1550fs) rs879254283
NM_000038.6(APC):c.4655_4656del (p.Glu1552fs) rs1765732008
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.4733_4734del (p.Cys1578fs) rs863225359
NM_000038.6(APC):c.4741del (p.Ser1581fs) rs886039682
NM_000038.6(APC):c.475dup (p.Tyr159fs) rs863225361
NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs) rs886039641
NM_000038.6(APC):c.5005_5008del (p.Ala1670fs) rs1554086363
NM_000038.6(APC):c.508_509del (p.Ile169_Asp170insTer) rs886039642
NM_000038.6(APC):c.5145del (p.Asp1715fs) rs863225363
NM_000038.6(APC):c.5234dup (p.Ile1746fs) rs1554086550
NM_000038.6(APC):c.524_531+4del rs863225364
NM_000038.6(APC):c.531+2T>A rs863225365
NM_000038.6(APC):c.531+2T>C rs863225365
NM_000038.6(APC):c.5569del (p.Ser1857fs) rs1064795688
NM_000038.6(APC):c.5570C>A (p.Ser1857Ter) rs1561601114
NM_000038.6(APC):c.5718del (p.Ala1907fs) rs1554086923
NM_000038.6(APC):c.573T>A (p.Tyr191Ter) rs185154886
NM_000038.6(APC):c.5804dup (p.Ser1936fs) rs863225367
NM_000038.6(APC):c.5936del (p.Asn1979fs) rs863225368
NM_000038.6(APC):c.5996del (p.Pro1999fs) rs863225369
NM_000038.6(APC):c.6010dup (p.Ala2004fs) rs879254226
NM_000038.6(APC):c.6059_6062del (p.Cys2020fs) rs876660174
NM_000038.6(APC):c.6093_6095delinsAC (p.Ser2031fs) rs879254155
NM_000038.6(APC):c.6150_6151del (p.Lys2052fs) rs1561605508
NM_000038.6(APC):c.6230_6236del (p.Thr2077fs) rs2149960139
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.645+1G>A rs863225370
NM_000038.6(APC):c.6542_6545del (p.Ile2181fs) rs1554087515
NM_000038.6(APC):c.6610C>T (p.Arg2204Ter) rs752654519
NM_000038.6(APC):c.6747dup (p.Gly2250fs) rs773874693
NM_000038.6(APC):c.677del (p.Lys226fs) rs863225371
NM_000038.6(APC):c.6976C>T (p.Arg2326Ter) rs1060503355
NM_000038.6(APC):c.7143_7146del (p.Thr2382fs) rs886039687
NM_000038.6(APC):c.7270_7273del (p.Ser2424fs) rs1469278346
NM_000038.6(APC):c.7393_7394del (p.Leu2465fs) rs1554088313
NM_000038.6(APC):c.7477_7478del (p.Leu2493fs) rs1554088391
NM_000038.6(APC):c.7489dup (p.Ser2497fs) rs1409414498
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter) rs79630786
NM_000038.6(APC):c.7619_7623del (p.Pro2540fs) rs1580684796
NM_000038.6(APC):c.7891del (p.Ser2631fs) rs1554088726
NM_000038.6(APC):c.800del (p.Gly267fs) rs863225372
NM_000038.6(APC):c.800dup (p.Glu268fs) rs863225372
NM_000038.6(APC):c.834G>A (p.Gln278=) rs1060503261
NM_000038.6(APC):c.835-7T>G rs1554079128
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_001127510.3(APC):c.5758C>T (p.Arg1920Ter) rs587779800

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