ClinVar Miner

List of variants studied for colorectal cancer by Human Genetics Bochum, Ruhr University Bochum

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val) rs61752722 0.00197
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs) rs63751327 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000051.4(ATM):c.201T>G (p.Tyr67Ter) rs1555055083
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.2977del (p.Glu993fs)
NM_000179.3(MSH6):c.3955_3974dup (p.Met1326fs)
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.691del (p.Val231fs)
NM_000179.3(MSH6):c.726C>A (p.Ser242Arg) rs1553412151
NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter) rs587778894
NM_000249.4(MLH1):c.134_136del (p.Thr45del)
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu) rs63750726
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.4(MLH1):c.275_278del (p.Ala92fs)
NM_000249.4(MLH1):c.791-5T>G rs267607788
NM_000249.4(MLH1):c.879C>G (p.Tyr293Ter)
NM_000251.3(MSH2):c.1045C>T (p.Pro349Ser) rs267607939
NM_000251.3(MSH2):c.1186del (p.Arg396fs)
NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter) rs63751693
NM_000251.3(MSH2):c.211+1G>T rs1114167883
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del) rs587779165
NM_000251.3(MSH2):c.643C>T (p.Gln215Ter) rs63751274
NM_000251.3(MSH2):c.958dup (p.Thr320fs) rs63749852
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7:c.804-70_2445+71del
NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser) rs786201772
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_024675.4(PALB2):c.3314_3315del (p.Val1105fs) rs2142271759

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