ClinVar Miner

List of variants studied for colorectal neoplasm by CSER _CC_NCGL, University of Washington

Included ClinVar conditions (84):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11447
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758 0.00324
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410 0.00271
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607 0.00075
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883 0.00056
NM_022367.4(SEMA4A):c.1301T>C (p.Met434Thr) rs146822426 0.00044
NM_000038.6(APC):c.2847G>T (p.Met949Ile) rs147394539 0.00039
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile) rs142124529 0.00035
NM_006231.4(POLE):c.3971G>A (p.Arg1324His) rs143981093 0.00032
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809 0.00026
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
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.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969 0.00013
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 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_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) rs143076166 0.00006
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln) rs778275831 0.00006
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln) rs559896573 0.00004
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057 0.00003
NM_005431.2(XRCC2):c.641G>A (p.Arg214Gln) rs368445278 0.00003
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser) rs367676584 0.00001
NM_000179.3(MSH6):c.854G>T (p.Ser285Ile) rs63750878 0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg) rs587779954 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_002691.4(POLD1):c.3035G>A (p.Cys1012Tyr) rs1057519693 0.00001
NM_002691.4(POLD1):c.46A>G (p.Lys16Glu) rs765185645 0.00001
NM_006231.4(POLE):c.2214G>C (p.Lys738Asn) rs749305408 0.00001
NM_006231.4(POLE):c.6257T>C (p.Met2086Thr) rs528752399 0.00001
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met) rs63750442
NM_000179.3(MSH6):c.383G>T (p.Arg128Leu) rs63750143
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.3(MSH2):c.1803G>C (p.Gln601His) rs1553368556
NM_000251.3(MSH2):c.2354A>G (p.His785Arg) rs200252727
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_001040108.2(MLH3):c.713A>G (p.Tyr238Cys) rs144707485
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.3041G>A (p.Gly1014Asp) rs1057519694
NM_004655.4(AXIN2):c.1460_1472dup (p.Pro494fs) rs1567755946
NM_005215.4(DCC):c.3872G>A (p.Arg1291Gln) rs768577706
NM_005215.4(DCC):c.4028G>A (p.Arg1343His) rs149118168
NM_024642.5(GALNT12):c.1281_1296del (p.Trp427fs) rs1472145598

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