ClinVar Miner

List of variants reported as not provided for colorectal cancer by GeneReviews

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741 0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter) rs63749873 0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter) rs63750955 0.00001
NM_000179.3(MSH6):c.1614_1615delinsAG (p.Tyr538_Leu539delinsTer) rs267608049
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter) rs63750111
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000249.4(MLH1):c.1039-2329_1409+827del
NM_000249.4(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1558+1G>T rs267607832
NM_000249.4(MLH1):c.1667+2_1667+8delinsATTT rs587778938
NM_000249.4(MLH1):c.1731+2247_1897-402del
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1758dup (p.Met587fs) rs63749863
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs) rs63750150
NM_000249.4(MLH1):c.1865T>A (p.Leu622His) rs63750693
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs) rs878853785
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter) rs63750978
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs) rs267607903
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.2269dup (p.Ter757LeuextTer?) rs1553666143
NM_000249.4(MLH1):c.306+5G>A rs267607735
NM_000249.4(MLH1):c.392C>G (p.Ser131Ter) rs63749818
NM_000249.4(MLH1):c.454-1G>A rs193922370
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000249.4(MLH1):c.589-2A>G rs267607767
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.1(MSH2):c.-823_1076+5984del
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg) rs63749993
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.3(MSH2):c.2185_2192delinsCCCT (p.Met729fs) rs2104378383
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000535.7(PMS2):c.989-296_1144+706del
NM_002354.2(EPCAM):c.859-1430_*2033del

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