ClinVar Miner

List of variants reported for Colorectal cancer by CSER _CC_NCGL, University of Washington

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
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_022367.4(SEMA4A):c.1301T>C (p.Met434Thr) rs146822426 0.00044
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_006231.4(POLE):c.3971G>A (p.Arg1324His) rs143981093 0.00032
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
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_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_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln) rs559896573 0.00004
NM_005431.2(XRCC2):c.641G>A (p.Arg214Gln) rs368445278 0.00003
NM_000179.3(MSH6):c.854G>T (p.Ser285Ile) rs63750878 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_000251.3(MSH2):c.2354A>G (p.His785Arg) rs200252727
NM_001040108.2(MLH3):c.713A>G (p.Tyr238Cys) rs144707485
NM_002691.4(POLD1):c.3041G>A (p.Gly1014Asp) rs1057519694
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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