ClinVar Miner

List of variants reported as not provided for colorectal cancer

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_002019.4(FLT1):c.2901G>A (p.Ala967=) rs56314249 0.03272
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_024642.5(GALNT12):c.566A>G (p.Asn189Ser) rs183981750 0.00039
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110 0.00013
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys) rs202145681 0.00013
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp) rs200830026 0.00005
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys) rs369456858 0.00004
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala) rs371302926 0.00004
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_005762.3(TRIM28):c.1216+23C>T rs398122526 0.00002
NM_000179.3(MSH6):c.1097A>G (p.Tyr366Cys) rs1482767334 0.00001
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741 0.00001
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg) rs63751009 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.905G>A (p.Arg302Lys) rs587781510 0.00001
NM_000249.4(MLH1):c.1897-7C>T rs373078652 0.00001
NM_000251.3(MSH2):c.1175A>T (p.Lys392Met) rs61756465 0.00001
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val) rs770625733 0.00001
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg) rs587782342 0.00001
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590 0.00001
GRCh37/hg19 7p22.1(chr7:6026390-6027251)x3
NM_000179.3(MSH6):c.*24_*28del rs587779200
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000179.3(MSH6):c.1480G>T (p.Ala494Ser) rs758699749
NM_000179.3(MSH6):c.1614_1615delinsAG (p.Tyr538_Leu539delinsTer) rs267608049
NM_000179.3(MSH6):c.1645del (p.Ser549fs) rs876661033
NM_000179.3(MSH6):c.2075A>G (p.Lys692Arg) rs975991506
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
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.322T>C (p.Cys108Arg) rs1668689651
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3450A>C (p.Leu1150Phe) rs762134820
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup) rs1553333420
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.1774A>G (p.Ser592Gly) rs2125984638
NM_000249.4(MLH1):c.1823C>T (p.Ala608Val) rs267607864
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.466T>C (p.Phe156Leu) rs1060500691
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000249.4(MLH1):c.589-2A>G rs267607767
NM_000249.4(MLH1):c.649C>A (p.Arg217Ser) rs4986984
NM_000249.4(MLH1):c.670G>A (p.Val224Ile) rs1553644251
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.1216C>G (p.Arg406Gly) rs63751108
NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA
NM_000251.3(MSH2):c.1387-9T>A rs587779087
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.181C>T (p.Gln61Ter) rs63750951
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_000251.3(MSH2):c.655dup (p.Arg219fs) rs1558461615
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg) rs1064794704
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg) rs587780041
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu) rs878854056
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
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_002019.4(FLT1):c.2654_2655insA (p.Gly886fs) rs555490448
NM_002019.4(FLT1):c.2708-29A>C rs558381447
NM_002019.4(FLT1):c.2708-39G>C rs537105078
NM_002019.4(FLT1):c.2871A>T (p.Leu957=) rs148695719
NM_002019.4(FLT1):c.3042_3043insA (p.Ser1015fs) rs573848371
NM_002019.4(FLT1):c.3175-69A>T rs576912997
NM_002019.4(FLT1):c.3204T>C (p.Pro1068=) rs2296189
NM_002019.4(FLT1):c.3287-16A>C rs537403174
NM_002019.4(FLT1):c.3329G>C (p.Cys1110Ser) rs730882263
NM_002354.2(EPCAM):c.859-1430_*2033del
NM_002354.3(EPCAM):c.-1C>G rs533255660
NM_182710.3(KAT5):c.638T>G (p.Val213Gly) rs386834229
Single allele

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