ClinVar Miner

List of variants reported as uncertain significance for Colorectal cancer, susceptibility to, 12 by Counsyl

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_006231.4(POLE):c.6531+5G>A rs368538240 0.00013
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_006231.4(POLE):c.2174-11G>A rs111570840 0.00009
NM_006231.4(POLE):c.1478del (p.Leu493fs) rs760070332 0.00006
NM_006231.4(POLE):c.1957G>T (p.Ala653Ser) rs751451482 0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006231.4(POLE):c.1274A>G (p.Lys425Arg) rs757186755 0.00003
NM_006231.4(POLE):c.138del (p.Leu46fs) rs1555230420 0.00003
NM_006231.4(POLE):c.2276G>A (p.Arg759His) rs746774432 0.00003
NM_006231.4(POLE):c.4522C>T (p.Arg1508Cys) rs766511597 0.00003
NM_006231.4(POLE):c.1055A>C (p.Gln352Pro) rs766094330 0.00002
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu) rs746585658 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_006231.4(POLE):c.850A>G (p.Lys284Glu) rs568483856 0.00002
NM_006231.4(POLE):c.1309G>A (p.Val437Met) rs115047349 0.00001
NM_006231.4(POLE):c.1378G>A (p.Val460Met) rs753586583 0.00001
NM_006231.4(POLE):c.1420G>A (p.Val474Ile) rs980578884 0.00001
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs) rs1060500792 0.00001
NM_006231.4(POLE):c.1524G>T (p.Gln508His) rs762030811 0.00001
NM_006231.4(POLE):c.2562-5T>G rs1461925348 0.00001
NM_006231.4(POLE):c.2612G>C (p.Ser871Thr) rs770470552 0.00001
NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter) rs151278283 0.00001
NM_006231.4(POLE):c.424-2A>G rs1555230117 0.00001
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048 0.00001
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579 0.00001
NM_006231.4(POLE):c.775C>T (p.Arg259Cys) rs777638541 0.00001
NM_006231.4(POLE):c.796C>T (p.Arg266Ter) rs767666219 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006231.4(POLE):c.1016A>T (p.Asp339Val) rs1060500865
NM_006231.4(POLE):c.1171_1173del (p.Lys391del) rs753999122
NM_006231.4(POLE):c.1181del (p.Gln394fs) rs764289504
NM_006231.4(POLE):c.1227-2A>T rs1057517609
NM_006231.4(POLE):c.1284del (p.Lys429fs) rs1057517613
NM_006231.4(POLE):c.1924-23_1927del rs1064795679
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.2174-12C>G rs192222479
NM_006231.4(POLE):c.2340GGC[1] (p.Ala782del) rs1064796065
NM_006231.4(POLE):c.2468+2dup rs1555226665
NM_006231.4(POLE):c.2932dup (p.Glu978fs) rs1032311596
NM_006231.4(POLE):c.2T>G (p.Met1Arg) rs879254126
NM_006231.4(POLE):c.3338G>A (p.Trp1113Ter) rs1461016090
NM_006231.4(POLE):c.3459+2T>C rs1057517634
NM_006231.4(POLE):c.3629dup (p.Pro1210_Asp1211insTer) rs1555224111
NM_006231.4(POLE):c.3669AGC[3] (p.Ala1225dup) rs750939989
NM_006231.4(POLE):c.4244A>G (p.Asn1415Ser) rs748378612
NM_006231.4(POLE):c.448C>T (p.Arg150Ter) rs775815329
NM_006231.4(POLE):c.4631dup (p.Leu1545fs) rs1555222731
NM_006231.4(POLE):c.4823T>G (p.Leu1608Arg) rs1255478620
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) rs868246375
NM_006231.4(POLE):c.5965del (p.Ala1989fs) rs1555221193
NM_006231.4(POLE):c.6236_6254del (p.Asn2079fs) rs765923256
NM_006231.4(POLE):c.6379C>T (p.Arg2127Ter) rs1057517583
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs) rs774417192
NM_006231.4(POLE):c.6585CTC[1] (p.Ser2197del) rs1188033351
NM_006231.4(POLE):c.6658-1G>A rs1555300846
NM_006231.4(POLE):c.6682_6684del (p.Lys2228del) rs878854896
NM_006231.4(POLE):c.778C>T (p.Arg260Ter) rs747946229
NM_006231.4(POLE):c.7C>G (p.Leu3Val) rs1018143132
NM_006231.4(POLE):c.802-1G>C rs1555229470

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