ClinVar Miner

Variants in gene APC with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 93
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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.1191_1192dup (p.Lys398fs) rs2149782311
NM_000038.6(APC):c.1229dup (p.Leu410fs) rs863225308
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.136-1G>A rs1554069481
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.1409-2_1409del rs1554081631
NM_000038.6(APC):c.1530dup (p.Gly511fs) rs1554081749
NM_000038.6(APC):c.1548G>A (p.Lys516=) rs879254090
NM_000038.6(APC):c.1626+1G>A rs1554081934
NM_000038.6(APC):c.1626+3A>G rs1060503372
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer) rs1554082135
NM_000038.6(APC):c.1743+1G>A rs761458613
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.1879_1880del (p.Asn627fs)
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.203del (p.Leu68fs) rs1756331894
NM_000038.6(APC):c.2054G>A (p.Trp685Ter) rs2149859555
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.2684C>G (p.Ser895Ter) rs2149875189
NM_000038.6(APC):c.2803dup (p.Tyr935fs)
NM_000038.6(APC):c.2804dup (p.Tyr935Ter) rs863225332
NM_000038.6(APC):c.2907_2911dup (p.Asp971fs)
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.311C>G (p.Ser104Ter) rs74953290
NM_000038.6(APC):c.3133C>T (p.Gln1045Ter) rs2149885099
NM_000038.6(APC):c.3224del (p.Tyr1075fs) rs1765368708
NM_000038.6(APC):c.3283C>T (p.Gln1095Ter) rs2149888710
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.3642del (p.Ser1214fs) rs2149896180
NM_000038.6(APC):c.3709_3710del (p.Gln1237fs) rs1554085246
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.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.6(APC):c.388del (p.Ser130fs) rs1554069828
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.4127_4128del (p.Tyr1376fs) rs1554085533
NM_000038.6(APC):c.4145del (p.Leu1382fs) rs2149907596
NM_000038.6(APC):c.4174del (p.Ser1392fs) rs1765620003
NM_000038.6(APC):c.422+2T>C rs879254169
NM_000038.6(APC):c.4222G>T (p.Glu1408Ter)
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.423-9A>G rs1554071494
NM_000038.6(APC):c.475dup (p.Tyr159fs) rs863225361
NM_000038.6(APC):c.476dup (p.Tyr159Ter) rs878853451
NM_000038.6(APC):c.4786del (p.Gln1596fs)
NM_000038.6(APC):c.503del (p.Arg168fs) rs2149615791
NM_000038.6(APC):c.5145del (p.Asp1715fs) rs863225363
NM_000038.6(APC):c.531+1G>A rs876659973
NM_000038.6(APC):c.531+1G>C rs876659973
NM_000038.6(APC):c.531+3A>C rs1114167550
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.5659_5663del (p.Asn1887fs) rs1554086854
NM_000038.6(APC):c.5669C>G (p.Ser1890Ter) rs1554086862
NM_000038.6(APC):c.5804dup (p.Ser1936fs) rs863225367
NM_000038.6(APC):c.5936del (p.Asn1979fs) rs863225368
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs) rs1057517544
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter) rs1057517568
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.645+1G>T rs863225370
NM_000038.6(APC):c.646-2A>C
NM_000038.6(APC):c.6474del (p.Phe2159fs)
NM_000038.6(APC):c.7135dup (p.Thr2379fs)
NM_000038.6(APC):c.7300del (p.Arg2434fs)
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.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.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
Single allele

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