ClinVar Miner

List of variants studied for colorectal cancer by Ding PR Lab, Sun Yat-sen University Cancer Center

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.859-6A>G rs150307203 0.00191
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_002354.3(EPCAM):c.458G>C (p.Arg153Thr) rs189732445 0.00020
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys) rs555329870 0.00016
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys) rs202145681 0.00013
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067 0.00005
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg) rs749660228 0.00004
NM_000535.7(PMS2):c.916G>A (p.Val306Met) rs587780063 0.00004
NM_000179.3(MSH6):c.1501C>T (p.His501Tyr) rs779411998 0.00002
NM_000249.4(MLH1):c.790C>T (p.His264Tyr) rs63751597 0.00002
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter) rs147542208 0.00001
NM_000249.4(MLH1):c.4T>G (p.Ser2Ala) rs1448308275 0.00001
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400 0.00001
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384 0.00001
NM_000179.3(MSH6):c.1503T>G (p.His501Gln) rs1572723237
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000249.3:c.(1409+1_1410-1)_(1558+1_1559-1)del
NM_000249.3:c.(1896+1_1897-1)_*193del
NM_000249.3:c.(306+1_307-1)_(790+1_791-1)del
NM_000249.4(MLH1):c.1038+1G>C rs267607816
NM_000249.4(MLH1):c.1139_1149del (p.Ala380fs) rs2083404326
NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs) rs1575536219
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1612del (p.Trp538fs) rs2084643841
NM_000249.4(MLH1):c.1616_1619del (p.Ala539fs) rs2084645057
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro) rs267607865
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.1866del (p.Ala623fs) rs587778950
NM_000249.4(MLH1):c.1926dup (p.Ile643fs) rs2085415475
NM_000249.4(MLH1):c.1990-3_2001del rs2085459433
NM_000249.4(MLH1):c.2041del (p.Ala681fs) rs2085472296
NM_000249.4(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.4(MLH1):c.345_349del (p.Thr116fs) rs2081714489
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.473del (p.Asn158fs) rs2082051355
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.885-2A>C rs267607805
NM_000251.3(MSH2):c.1076+8A>T rs1673084214
NM_000251.3(MSH2):c.2756ATA[1] (p.Asn920del) rs1573582800
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_002354.3(EPCAM):c.730C>G (p.Pro244Ala) rs755757555
NM_002354.3(EPCAM):c.903+5A>G rs199784016

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