ClinVar Miner

List of variants studied for colorectal cancer by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (75):
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Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln) rs28756986 0.00772
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000249.4(MLH1):c.1897-17C>G rs2308316 0.00029
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809 0.00006
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu) rs587779932 0.00004
NM_000249.4(MLH1):c.945C>G (p.His315Gln) rs587779959 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr) rs587779926 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly) rs587780052 0.00003
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter) rs63750909 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047 0.00001
GRCh37/hg19 2p21(chr2:47612218-47693997)x1
NM_000038.6(APC):c.1720G>T (p.Glu574Ter) rs1764024563
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs) rs730881273
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs) rs63750854
NM_000179.3(MSH6):c.1796_1797del (p.Gly599fs) rs2104368213
NM_000179.3(MSH6):c.2194_2197del (p.Arg732fs) rs1669432834
NM_000179.3(MSH6):c.2551_2552insTTATA (p.Ser851fs)
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.3080dup (p.Ser1028fs) rs1572730021
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3266T>C (p.Leu1089Ser) rs1669748364
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del) rs876660192
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.4(MLH1):c.588+1del rs267607773
NM_000249.4(MLH1):c.790+4A>G rs267607786
NM_000249.4(MLH1):c.791-5T>G rs267607788
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.3(MSH2):c.1759+1G>T rs587779108
NM_000251.3(MSH2):c.2367del (p.Leu790fs) rs1667397201
NM_000251.3(MSH2):c.2444A>G (p.Tyr815Cys) rs1667403267
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer) rs63751621
NM_000251.3(MSH2):c.2562del (p.Gln855fs) rs1114167836
NM_000251.3(MSH2):c.795del (p.Ala266fs) rs63749902
NM_000251.3(MSH2):c.942+25_942+29del rs11309117
NM_000251.3(MSH2):c.942+27_942+29del rs11309117
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000251.3:c.(1662+1_1663-1)_(2805+1_?)del
NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile) rs1783517960
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter) rs587779343
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
NM_000535.7(PMS2):c.774_780delinsTACG (p.Cys259_Ser260delinsThr) rs1554301436
NM_000535.7(PMS2):c.778_780delinsACG (p.Ser260Thr)
NM_000535.7:c.(1144+1_1145-1)_(2174+1_2175-1)dup
NM_001904.4(CTNNB1):c.1296_1298del (p.Tyr432_Lys433delinsTer) rs2078362331
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) rs104893813

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