ClinVar Miner

List of variants in gene APC reported as likely pathogenic for Familial adenomatous polyposis 1

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Gene type:
ClinVar version:
Total variants: 222
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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.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000038.6(APC):c.3083G>T (p.Ser1028Ile) rs1114167617 0.00001
NC_000005.10:g.(?_112754891)_(112767400_?)dup
NC_000005.9:g.(?_112072721)_(112090728_?)dup
NC_000005.9:g.(?_112072721)_(112090732_?)dup
NC_000005.9:g.(?_112072721)_(112111440_?)dup
NC_000005.9:g.(?_112072721)_(112116610_?)dup
NC_000005.9:g.(?_112090570)_(112157688_?)dup
NC_000005.9:g.(?_112090582)_(112137086_?)dup
NC_000005.9:g.(?_112090582)_(112157694_?)dup
NC_000005.9:g.(?_112090588)_(112137090_?)dup
NC_000005.9:g.(?_112111314)_(112116610_?)dup
NC_000005.9:g.(?_112169968)_(112170785_?)del
NC_000005.9:g.(?_112170638)_(112170872_?)dup
NM_000038.5(APC):c.-18-?_834+?dup
NM_000038.6(APC):c.1191_1192dup (p.Lys398fs) rs2149782311
NM_000038.6(APC):c.1207G>T (p.Glu403Ter)
NM_000038.6(APC):c.1240del (p.Arg414fs) rs1554080082
NM_000038.6(APC):c.1312+1G>A rs863225310
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1312+3A>T
NM_000038.6(APC):c.1312+3_1312+6del
NM_000038.6(APC):c.1312+5G>C rs886039507
NM_000038.6(APC):c.1313-2A>C rs1561545780
NM_000038.6(APC):c.1313-2A>G rs1561545780
NM_000038.6(APC):c.135+1G>A
NM_000038.6(APC):c.135+1G>T rs750508765
NM_000038.6(APC):c.135+2T>C rs1554067164
NM_000038.6(APC):c.136-1G>A rs1554069481
NM_000038.6(APC):c.136-2A>G rs886039625
NM_000038.6(APC):c.136-2A>T
NM_000038.6(APC):c.1397_1398insA (p.Met466fs)
NM_000038.6(APC):c.1408+1G>A
NM_000038.6(APC):c.1408+1del
NM_000038.6(APC):c.1408+731C>T
NM_000038.6(APC):c.1408+743_1408+745delinsACG rs2149794988
NM_000038.6(APC):c.1409-1G>A rs863225313
NM_000038.6(APC):c.1409-1G>C rs863225313
NM_000038.6(APC):c.1409-1G>T rs863225313
NM_000038.6(APC):c.1409-2A>C rs1064794163
NM_000038.6(APC):c.1409-2A>T rs1064794163
NM_000038.6(APC):c.1409-2_1409del rs1554081631
NM_000038.6(APC):c.1409-3T>G rs1554081629
NM_000038.6(APC):c.1409-6A>G rs886039508
NM_000038.6(APC):c.1530_1548+10del rs1554081752
NM_000038.6(APC):c.1530dup (p.Gly511fs) rs1554081749
NM_000038.6(APC):c.1545_1548+8del
NM_000038.6(APC):c.1548+2T>C rs1057517561
NM_000038.6(APC):c.1548G>A (p.Lys516=) rs879254090
NM_000038.6(APC):c.1549-19T>G rs2149812994
NM_000038.6(APC):c.1549-1G>A rs863225316
NM_000038.6(APC):c.1549-1G>T rs863225316
NM_000038.6(APC):c.1549-2A>G
NM_000038.6(APC):c.1626+1G>A rs1554081934
NM_000038.6(APC):c.1626+1G>T rs1554081934
NM_000038.6(APC):c.1626+2T>C rs876658858
NM_000038.6(APC):c.1626+2T>G rs876658858
NM_000038.6(APC):c.1626+3A>G rs1060503372
NM_000038.6(APC):c.1626G>C (p.Gln542His) rs1580569744
NM_000038.6(APC):c.1627-1G>C
NM_000038.6(APC):c.1627-2A>G rs1580573837
NM_000038.6(APC):c.1627-2A>T
NM_000038.6(APC):c.1700del (p.Gly567fs)
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer) rs1554082135
NM_000038.6(APC):c.1740_1743+16del
NM_000038.6(APC):c.1743+1G>A rs761458613
NM_000038.6(APC):c.1743+1G>C
NM_000038.6(APC):c.1743+1G>T rs761458613
NM_000038.6(APC):c.1743+2T>A
NM_000038.6(APC):c.1743+2T>C
NM_000038.6(APC):c.1743G>C (p.Lys581Asn) rs1114167592
NM_000038.6(APC):c.1744-11_1744-1del rs1064792977
NM_000038.6(APC):c.1879_1880del (p.Asn627fs)
NM_000038.6(APC):c.1902T>G (p.Ser634Arg) rs876659460
NM_000038.6(APC):c.1908_1909dup (p.Gly637fs) rs1764733583
NM_000038.6(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.6(APC):c.1959-1G>A rs863225321
NM_000038.6(APC):c.1959-1G>C rs863225321
NM_000038.6(APC):c.1959-2A>G rs876658214
NM_000038.6(APC):c.1959-2A>T rs876658214
NM_000038.6(APC):c.1959-7_1964del rs2149857426
NM_000038.6(APC):c.203del (p.Leu68fs) rs1756331894
NM_000038.6(APC):c.2054G>A (p.Trp685Ter) rs2149859555
NM_000038.6(APC):c.2057_2058del (p.Asn686fs) rs1561574581
NM_000038.6(APC):c.2173_2186del (p.Ala725fs)
NM_000038.6(APC):c.219A>G (p.Lys73=) rs2149784873
NM_000038.6(APC):c.220+1del
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.221-1G>A rs863225327
NM_000038.6(APC):c.221-1G>C rs863225327
NM_000038.6(APC):c.221-2A>G rs786201291
NM_000038.6(APC):c.2385_2386del (p.Tyr796fs) rs1561576666
NM_000038.6(APC):c.2396_2397del (p.Tyr799fs)
NM_000038.6(APC):c.2512A>T (p.Arg838Ter)
NM_000038.6(APC):c.2614del (p.Thr872fs)
NM_000038.6(APC):c.2684C>G (p.Ser895Ter) rs2149875189
NM_000038.6(APC):c.271del (p.Met91fs) rs1554069710
NM_000038.6(APC):c.2743del (p.Cys914_Val915insTer) rs1765255282
NM_000038.6(APC):c.2803dup (p.Tyr935fs)
NM_000038.6(APC):c.2804dup (p.Tyr935Ter) rs863225332
NM_000038.6(APC):c.281_282del (p.Arg94fs) rs1561464190
NM_000038.6(APC):c.2907_2911dup (p.Asp971fs)
NM_000038.6(APC):c.3013_3019del (p.Ala1005fs) rs1057517553
NM_000038.6(APC):c.3024dup (p.His1009fs)
NM_000038.6(APC):c.3077A>G (p.Asn1026Ser) rs1114167603
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.3133C>T (p.Gln1045Ter) rs2149885099
NM_000038.6(APC):c.3224del (p.Tyr1075fs) rs1765368708
NM_000038.6(APC):c.3283_3296dup (p.Pro1101fs)
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.339del (p.Pro114fs)
NM_000038.6(APC):c.3642del (p.Ser1214fs) rs2149896180
NM_000038.6(APC):c.369_422+44delinsG rs2149789411
NM_000038.6(APC):c.3709_3710del (p.Gln1237fs) rs1554085246
NM_000038.6(APC):c.3715A>T (p.Arg1239Ter)
NM_000038.6(APC):c.3724C>T (p.Gln1242Ter) rs1460397656
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) rs863225345
NM_000038.6(APC):c.3787del (p.Cys1263fs)
NM_000038.6(APC):c.3841del (p.Ser1281fs)
NM_000038.6(APC):c.3885del (p.Ala1296fs) rs2149901242
NM_000038.6(APC):c.388del (p.Ser130fs) rs1554069828
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3991A>T (p.Arg1331Ter) rs1765576393
NM_000038.6(APC):c.4127_4128del (p.Tyr1376fs) rs1554085533
NM_000038.6(APC):c.4139C>T (p.Thr1380Ile) rs876660713
NM_000038.6(APC):c.4145del (p.Leu1382fs) rs2149907596
NM_000038.6(APC):c.4174del (p.Ser1392fs) rs1765620003
NM_000038.6(APC):c.422+1G>A
NM_000038.6(APC):c.422+1G>C rs1756480727
NM_000038.6(APC):c.422+1del
NM_000038.6(APC):c.422+2T>A
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.422+2T>G rs879254169
NM_000038.6(APC):c.422+2_422+3del
NM_000038.6(APC):c.4222G>T (p.Glu1408Ter)
NM_000038.6(APC):c.423-11A>G rs1580358224
NM_000038.6(APC):c.423-12A>G
NM_000038.6(APC):c.423-19_423-17del
NM_000038.6(APC):c.423-30_423-15delinsGT
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.423-3_456del rs1580358296
NM_000038.6(APC):c.423-8A>G rs2149614206
NM_000038.6(APC):c.423-9A>G rs1554071494
NM_000038.6(APC):c.424_531+69dup rs1561477658
NM_000038.6(APC):c.4292dup (p.Met1431fs)
NM_000038.6(APC):c.4328_4335del (p.Pro1443fs) rs2149911897
NM_000038.6(APC):c.4483dup (p.Ser1495fs) rs1580648665
NM_000038.6(APC):c.4619_4620del (p.Glu1540fs) rs1554086015
NM_000038.6(APC):c.4667del (p.Thr1556fs)
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.4741del (p.Ser1581fs) rs886039682
NM_000038.6(APC):c.4761_4762del (p.Ser1588fs)
NM_000038.6(APC):c.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.4786del (p.Gln1596fs)
NM_000038.6(APC):c.4792_4801del (p.Ala1598fs)
NM_000038.6(APC):c.5026A>T (p.Arg1676Ter)
NM_000038.6(APC):c.503del (p.Arg168fs) rs2149615791
NM_000038.6(APC):c.524_531+4del rs863225364
NM_000038.6(APC):c.531+1G>A rs876659973
NM_000038.6(APC):c.531+1G>C rs876659973
NM_000038.6(APC):c.531+1G>T
NM_000038.6(APC):c.531+1_531+2del
NM_000038.6(APC):c.531+3A>C rs1114167550
NM_000038.6(APC):c.531+5_531+8del rs1554071617
NM_000038.6(APC):c.532-1G>A rs1554072547
NM_000038.6(APC):c.532-2A>T rs752152148
NM_000038.6(APC):c.532-8G>A rs1060503323
NM_000038.6(APC):c.5493dup (p.Asp1832fs)
NM_000038.6(APC):c.5659_5663del (p.Asn1887fs) rs1554086854
NM_000038.6(APC):c.5669C>G (p.Ser1890Ter) rs1554086862
NM_000038.6(APC):c.5936del (p.Asn1979fs) rs863225368
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs) rs1057517544
NM_000038.6(APC):c.6150_6151del (p.Lys2052fs) rs1561605508
NM_000038.6(APC):c.6150_6153del (p.Lys2051fs)
NM_000038.6(APC):c.6287C>G (p.Ser2096Ter) rs1561606344
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter) rs1057517568
NM_000038.6(APC):c.6426dup (p.Ser2143fs)
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.645+1G>C
NM_000038.6(APC):c.645+1G>T rs863225370
NM_000038.6(APC):c.645+1del
NM_000038.6(APC):c.646-1G>A rs78847145
NM_000038.6(APC):c.646-2A>C
NM_000038.6(APC):c.646-2A>G rs777848503
NM_000038.6(APC):c.646-68_658del
NM_000038.6(APC):c.6474del (p.Phe2159fs)
NM_000038.6(APC):c.6652C>T (p.Gln2218Ter)
NM_000038.6(APC):c.7135dup (p.Thr2379fs)
NM_000038.6(APC):c.7300del (p.Arg2434fs)
NM_000038.6(APC):c.7403C>G (p.Ser2468Ter)
NM_000038.6(APC):c.7451_7452insTG (p.Leu2484fs) rs2149987292
NM_000038.6(APC):c.7467_7468dup (p.Asp2490fs) rs1554088383
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.7658_7661dup (p.His2554fs)
NM_000038.6(APC):c.7678C>T (p.Arg2560Ter) rs1580685528
NM_000038.6(APC):c.7798_7801del (p.Gln2600fs) rs1561618361
NM_000038.6(APC):c.7927_7928del (p.Leu2643fs) rs1766600757
NM_000038.6(APC):c.7928dup (p.Ile2644fs)
NM_000038.6(APC):c.7959_7962del (p.Thr2654fs) rs1554088793
NM_000038.6(APC):c.8222del (p.Gly2741fs)
NM_000038.6(APC):c.834+2T>C
NM_000038.6(APC):c.834+2T>G
NM_000038.6(APC):c.834G>A (p.Gln278=) rs1060503261
NM_000038.6(APC):c.835-2A>G
NM_000038.6(APC):c.835-7T>G rs1554079128
NM_000038.6(APC):c.835-8A>G rs1064793022
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.931_933+2delinsCA
NM_000038.6(APC):c.933+1G>A rs876660765
NM_000038.6(APC):c.933+2T>A rs1057517559
NM_000038.6(APC):c.933+2T>C rs1057517559
NM_000038.6(APC):c.933+2T>G rs1057517559
NM_000038.6(APC):c.933+809T>G rs2149767732
NM_000038.6(APC):c.933G>C (p.Lys311Asn) rs1762431806
NM_000038.6(APC):c.934-2A>G rs1554079938
NM_001127510.3(APC):c.1917dup (p.Arg640fs) rs397515732
Single allele

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