ClinVar Miner

List of variants studied for colorectal cancer by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 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.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs) rs1553648058 0.00001
NM_000535.7(PMS2):c.23+1G>T rs587782074 0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs) rs587783056
NM_000179.3(MSH6):c.2087_2093del (p.Ile696fs) rs1114167733
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3922_3938dup (p.Gln1314fs) rs1670123011
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000249.4(MLH1):c.116+1G>A rs267607709
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.4(MLH1):c.1668-1G>T rs267607845
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer) rs2080891193
NM_000249.4(MLH1):c.538G>T (p.Val180Phe) rs1559524603
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter) rs63750823
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter) rs63749827
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter) rs63750396
NM_000251.3(MSH2):c.1201_1204del (p.Leu401fs) rs1558478567
NM_000251.3(MSH2):c.1649_1650del (p.Lys550fs) rs1114167835
NM_000251.3(MSH2):c.1759+2T>C rs267607976
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter) rs63750488
NM_000535.7(PMS2):c.1067del (p.Lys356fs) rs587781395
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs) rs1785419483
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.452G>C (p.Arg151Pro) rs35629870
NM_000535.7(PMS2):c.457del (p.Arg153fs) rs1785207289
NM_000535.7(PMS2):c.537+1del rs1064793868
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.873del (p.Phe291fs) rs1261282733
NM_000535.7(PMS2):c.989-1G>T rs587780064

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