ClinVar Miner

List of variants in gene APC reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 52
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HGVS dbSNP gnomAD frequency
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.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430 0.00008
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) rs587779804 0.00007
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 0.00007
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000038.6(APC):c.4424C>T (p.Ala1475Val) rs375380414 0.00005
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637 0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000038.6(APC):c.1904G>C (p.Gly635Ala) rs730881239 0.00003
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000038.6(APC):c.1589T>C (p.Val530Ala) rs202199891 0.00002
NM_000038.6(APC):c.1685C>T (p.Thr562Met) rs587783034 0.00002
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) rs756859993 0.00002
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu) rs748745776 0.00002
NM_000038.6(APC):c.1498T>C (p.Tyr500His) rs762019672 0.00001
NM_000038.6(APC):c.1743+6T>C rs766973462 0.00001
NM_000038.6(APC):c.1829A>G (p.Asp610Gly) rs756090401 0.00001
NM_000038.6(APC):c.3161A>C (p.His1054Pro) rs777538550 0.00001
NM_000038.6(APC):c.4100A>G (p.Gln1367Arg) rs1399790840 0.00001
NM_000038.6(APC):c.4101G>C (p.Gln1367His) rs761886683 0.00001
NM_000038.6(APC):c.5866A>G (p.Ile1956Val) rs749597014 0.00001
NM_000038.6(APC):c.6658A>G (p.Asn2220Asp) rs374464049 0.00001
NM_000038.6(APC):c.7498C>G (p.Gln2500Glu) rs372535376 0.00001
NM_000038.6(APC):c.933+5C>A rs573528468 0.00001
NM_000038.6(APC):c.1462C>T (p.Leu488Phe) rs587779782
NM_000038.6(APC):c.2383C>G (p.Leu795Val) rs1442780982
NM_000038.6(APC):c.2819C>G (p.Ser940Trp) rs544709767
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser) rs372855304
NM_000038.6(APC):c.4540C>T (p.Pro1514Ser) rs1060503266
NM_000038.6(APC):c.4546A>G (p.Ile1516Val) rs1554085952
NM_000038.6(APC):c.4885C>G (p.His1629Asp) rs765849654
NM_000038.6(APC):c.5201A>C (p.Lys1734Thr) rs1204161988
NM_000038.6(APC):c.5645G>C (p.Arg1882Thr) rs34157245
NM_000038.6(APC):c.5761G>T (p.Gly1921Cys) rs1060503324
NM_000038.6(APC):c.592G>A (p.Val198Ile) rs1168791940
NM_000038.6(APC):c.6040G>A (p.Val2014Ile) rs143313902
NM_000038.6(APC):c.638G>A (p.Arg213Gln) rs1235428754
NM_000038.6(APC):c.6434G>T (p.Gly2145Val) rs1554087422
NM_000038.6(APC):c.7289A>C (p.Asp2430Ala) rs1554088226
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile) rs587778037
NM_000038.6(APC):c.811A>T (p.Met271Leu) rs587781464
NM_000038.6(APC):c.8181G>C (p.Gln2727His) rs756467505
NM_000038.6(APC):c.942G>T (p.Met314Ile) rs1350080370
NM_001127511.3(APC):c.137C>T (p.Thr46Ile) rs1016971418

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