ClinVar Miner

List of variants in gene APC reported as uncertain significance for colorectal carcinoma

Included ClinVar conditions (14):
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Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836 0.00021
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00015
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.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn) rs538230198 0.00006
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe) rs372418435 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 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.791A>G (p.Gln264Arg) rs369345931 0.00003
NM_001127511.3(APC):c.1A>G (p.Met1Val) rs189807660 0.00003
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) rs756859993 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) rs779287035 0.00002
NM_000038.6(APC):c.7172T>G (p.Ile2391Ser) rs747797803 0.00002
NM_000038.6(APC):c.1121G>A (p.Arg374Gln) rs141582813 0.00001
NM_000038.6(APC):c.1958+5A>G rs762899641 0.00001
NM_000038.6(APC):c.2105G>A (p.Gly702Glu) rs876658289 0.00001
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437 0.00001
NM_000038.6(APC):c.262C>T (p.Arg88Trp) rs746592911 0.00001
NM_000038.6(APC):c.2909G>A (p.Ser970Asn) rs767473403 0.00001
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082 0.00001
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln) rs201550951 0.00001
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys) rs587779796 0.00001
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526 0.00001
NM_000038.6(APC):c.5194A>G (p.Met1732Val) rs752065261 0.00001
NM_000038.6(APC):c.5267C>T (p.Ser1756Phe) rs773178712 0.00001
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096 0.00001
NM_000038.6(APC):c.7508G>A (p.Gly2503Glu) rs750111908 0.00001
NM_000038.6(APC):c.811A>G (p.Met271Val) rs587781464 0.00001
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470 0.00001
NM_000038.6(APC):c.10G>C (p.Ala4Pro) rs774219012
NM_000038.6(APC):c.1374T>C (p.Phe458=) rs2149792451
NM_000038.6(APC):c.1463T>C (p.Leu488Pro) rs368434773
NM_000038.6(APC):c.1592C>G (p.Ala531Gly) rs755879124
NM_000038.6(APC):c.1744-4C>G rs772745309
NM_000038.6(APC):c.1904G>A (p.Gly635Glu) rs730881239
NM_000038.6(APC):c.1993_1994del (p.Leu665fs) rs1580617349
NM_000038.6(APC):c.220+3A>G rs1554069573
NM_000038.6(APC):c.2789C>T (p.Thr930Ile) rs1580627038
NM_000038.6(APC):c.2819C>T (p.Ser940Leu) rs544709767
NM_000038.6(APC):c.3067dup (p.Thr1023fs) rs876658724
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.6(APC):c.3160C>T (p.His1054Tyr) rs1195583636
NM_000038.6(APC):c.3381G>C (p.Gln1127His) rs1554084977
NM_000038.6(APC):c.4138A>G (p.Thr1380Ala) rs2149907365
NM_000038.6(APC):c.4142C>G (p.Pro1381Arg) rs2149907480
NM_000038.6(APC):c.423-8A>G rs2149614206
NM_000038.6(APC):c.4261A>G (p.Ser1421Gly) rs1303200783
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.6(APC):c.52A>G (p.Met18Val) rs587782402
NM_000038.6(APC):c.5931A>G (p.Gln1977=) rs975299630
NM_000038.6(APC):c.6152A>G (p.Lys2051Arg) rs1554087256
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_000038.6(APC):c.6271G>A (p.Gly2091Ser) rs745308565
NM_000038.6(APC):c.6830C>G (p.Ser2277Cys) rs1554087778
NM_000038.6(APC):c.6893C>T (p.Ala2298Val) rs1554087829
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile) rs587778037
NM_000038.6(APC):c.7838G>A (p.Arg2613Lys) rs1554088693
NM_000038.6(APC):c.7869A>G (p.Thr2623=) rs775126492
NM_000038.6(APC):c.7879T>A (p.Ser2627Thr) rs1580687626
NM_000038.6(APC):c.7942G>T (p.Ala2648Ser) rs1195417407
NM_001127511.3(APC):c.-128G>C rs543098847

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