ClinVar Miner

Variants in gene APC with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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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.1042C>T (p.Arg348Ter) rs1314843920
NM_000038.6(APC):c.1626+3A>G rs1060503372
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.2395dup (p.Tyr799fs) rs879254110
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2995C>T (p.Gln999Ter) rs75239284
NM_000038.6(APC):c.3147G>A (p.Trp1049Ter) rs863225340
NM_000038.6(APC):c.32dup (p.Gln12fs) rs1561444620
NM_000038.6(APC):c.423-1G>A 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.4645C>T (p.Gln1549Ter) rs863225357
NM_000038.6(APC):c.487C>T (p.Gln163Ter) rs863225362
NM_000038.6(APC):c.562C>T (p.Gln188Ter) rs869312753
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.6510del (p.Glu2172fs) rs1554087474
NM_000038.6(APC):c.7964_7965del (p.Glu2655fs) rs2149997043
NM_000038.6(APC):c.8090C>G (p.Ser2697Ter)
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568

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