ClinVar Miner

List of variants in gene POLE reported as uncertain significance for Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

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Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_006231.4(POLE):c.3971G>A (p.Arg1324His) rs143981093 0.00032
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006231.4(POLE):c.3716A>G (p.Gln1239Arg) rs146210785 0.00016
NM_006231.4(POLE):c.1583C>T (p.Thr528Met) rs116263919 0.00014
NM_006231.4(POLE):c.2487G>A (p.Met829Ile) rs372109189 0.00014
NM_006231.4(POLE):c.6531+5G>A rs368538240 0.00013
NM_006231.4(POLE):c.1064A>G (p.Lys355Arg) rs141396559 0.00012
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser) rs757559474 0.00012
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.2773T>C (p.Ser925Pro) rs141552148 0.00010
NM_006231.4(POLE):c.6454G>A (p.Val2152Met) rs138789360 0.00010
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_006231.4(POLE):c.718G>A (p.Val240Met) rs371882716 0.00010
NM_006231.4(POLE):c.314A>G (p.Tyr105Cys) rs1451750169 0.00009
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_006231.4(POLE):c.4168C>T (p.Arg1390Cys) rs768504121 0.00008
NM_006231.4(POLE):c.4736G>A (p.Arg1579His) rs375590443 0.00008
NM_006231.4(POLE):c.3968C>T (p.Ala1323Val) rs550525366 0.00007
NM_006231.4(POLE):c.5516G>A (p.Arg1839His) rs370512955 0.00006
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val) rs190813054 0.00006
NM_006231.4(POLE):c.2818A>G (p.Met940Val) rs148382941 0.00005
NM_006231.4(POLE):c.5206G>A (p.Val1736Ile) rs770181299 0.00005
NM_006231.4(POLE):c.6124G>A (p.Gly2042Arg) rs147954675 0.00005
NM_006231.4(POLE):c.2054G>A (p.Arg685Gln) rs770597683 0.00004
NM_006231.4(POLE):c.2599G>A (p.Val867Ile) rs374200895 0.00004
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys) rs369751686 0.00004
NM_006231.4(POLE):c.3778G>A (p.Ala1260Thr) rs143858927 0.00004
NM_006231.4(POLE):c.4267A>G (p.Ile1423Val) rs139498590 0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln) rs754518522 0.00004
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser) rs150545516 0.00004
NM_006231.4(POLE):c.4493C>T (p.Ala1498Val) rs751465593 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.461G>A (p.Arg154Lys) rs769882912 0.00004
NM_006231.4(POLE):c.5662G>A (p.Glu1888Lys) rs368363850 0.00004
NM_006231.4(POLE):c.301A>G (p.Lys101Glu) rs560654523 0.00003
NM_006231.4(POLE):c.3668C>T (p.Pro1223Leu) rs766806062 0.00003
NM_006231.4(POLE):c.4106A>G (p.Asn1369Ser) rs746524982 0.00003
NM_006231.4(POLE):c.4112G>A (p.Arg1371Gln) rs535074635 0.00003
NM_006231.4(POLE):c.5797A>G (p.Ile1933Val) rs758762868 0.00003
NM_006231.4(POLE):c.5988C>G (p.Phe1996Leu) rs756828876 0.00003
NM_006231.4(POLE):c.6049C>T (p.Arg2017Cys) rs115452769 0.00003
NM_006231.4(POLE):c.6119C>T (p.Ala2040Val) rs5745021 0.00003
NM_006231.4(POLE):c.1940A>T (p.Asp647Val) rs1060500884 0.00002
NM_006231.4(POLE):c.1949C>T (p.Thr650Ile) rs115559742 0.00002
NM_006231.4(POLE):c.302A>G (p.Lys101Arg) rs1016258970 0.00002
NM_006231.4(POLE):c.3614C>T (p.Pro1205Leu) rs772686048 0.00002
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln) rs201738371 0.00002
NM_006231.4(POLE):c.3745G>A (p.Val1249Met) rs762626359 0.00002
NM_006231.4(POLE):c.3890C>T (p.Ser1297Leu) rs746585658 0.00002
NM_006231.4(POLE):c.3989C>T (p.Pro1330Leu) rs1409584745 0.00002
NM_006231.4(POLE):c.4199A>G (p.Tyr1400Cys) rs370971579 0.00002
NM_006231.4(POLE):c.4270G>A (p.Glu1424Lys) rs575419120 0.00002
NM_006231.4(POLE):c.5267T>A (p.Ile1756Asn) rs199535980 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_006231.4(POLE):c.6434G>A (p.Arg2145Gln) rs770009143 0.00002
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met) rs764457707 0.00002
NM_006231.4(POLE):c.6796G>A (p.Gly2266Ser) rs200911338 0.00002
NM_006231.4(POLE):c.724C>T (p.His242Tyr) rs148525573 0.00002
NM_006231.4(POLE):c.109C>T (p.Arg37Trp) rs753101641 0.00001
NM_006231.4(POLE):c.1591G>A (p.Gly531Arg) rs748489355 0.00001
NM_006231.4(POLE):c.1687-3T>G rs148115738 0.00001
NM_006231.4(POLE):c.1741G>T (p.Ala581Ser) rs755090755 0.00001
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg) rs750826256 0.00001
NM_006231.4(POLE):c.1935G>A (p.Met645Ile) rs561707898 0.00001
NM_006231.4(POLE):c.2020G>A (p.Glu674Lys) rs779458859 0.00001
NM_006231.4(POLE):c.2123A>G (p.His708Arg) rs2042844365 0.00001
NM_006231.4(POLE):c.2182C>T (p.Arg728Trp) rs1020252487 0.00001
NM_006231.4(POLE):c.218A>G (p.Asp73Gly) rs1060500786 0.00001
NM_006231.4(POLE):c.2225G>A (p.Arg742His) rs116360781 0.00001
NM_006231.4(POLE):c.2275C>T (p.Arg759Cys) rs759398253 0.00001
NM_006231.4(POLE):c.229C>T (p.Arg77Cys) rs1060500889 0.00001
NM_006231.4(POLE):c.2327A>G (p.Lys776Arg) rs375791061 0.00001
NM_006231.4(POLE):c.2335C>T (p.Leu779Phe) rs747478766 0.00001
NM_006231.4(POLE):c.266A>C (p.Asp89Ala) rs756843283 0.00001
NM_006231.4(POLE):c.2706+5G>A rs375931088 0.00001
NM_006231.4(POLE):c.2711G>C (p.Gly904Ala) rs1332965505 0.00001
NM_006231.4(POLE):c.271G>A (p.Gly91Arg) rs1316316435 0.00001
NM_006231.4(POLE):c.3109C>T (p.Arg1037Cys) rs948001596 0.00001
NM_006231.4(POLE):c.3219G>T (p.Gly1073=) rs760636704 0.00001
NM_006231.4(POLE):c.3401T>C (p.Ile1134Thr) rs1054915845 0.00001
NM_006231.4(POLE):c.3612T>G (p.Ser1204Arg) rs773580533 0.00001
NM_006231.4(POLE):c.3850C>T (p.Arg1284Trp) rs753426630 0.00001
NM_006231.4(POLE):c.3901G>A (p.Val1301Met) rs112098447 0.00001
NM_006231.4(POLE):c.3938C>T (p.Thr1313Met) rs949243552 0.00001
NM_006231.4(POLE):c.4027G>A (p.Gly1343Ser) rs556821288 0.00001
NM_006231.4(POLE):c.4144C>T (p.Arg1382Cys) rs5744904 0.00001
NM_006231.4(POLE):c.4172C>G (p.Ser1391Cys) rs149145495 0.00001
NM_006231.4(POLE):c.4276G>A (p.Val1426Ile) rs775072147 0.00001
NM_006231.4(POLE):c.452A>G (p.Asn151Ser) rs969812647 0.00001
NM_006231.4(POLE):c.4789G>A (p.Ala1597Thr) rs752184541 0.00001
NM_006231.4(POLE):c.4952+4A>G rs962068207 0.00001
NM_006231.4(POLE):c.5023C>T (p.Arg1675Cys) rs1027297469 0.00001
NM_006231.4(POLE):c.5084G>A (p.Gly1695Asp) rs920535000 0.00001
NM_006231.4(POLE):c.5492T>C (p.Leu1831Pro) rs781674901 0.00001
NM_006231.4(POLE):c.5608C>T (p.Arg1870Cys) rs138231414 0.00001
NM_006231.4(POLE):c.5633G>A (p.Arg1878His) rs374022997 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.595G>A (p.Gly199Ser) rs776540681 0.00001
NM_006231.4(POLE):c.6073G>A (p.Val2025Met) rs995579204 0.00001
NM_006231.4(POLE):c.6323T>C (p.Val2108Ala) rs370363095 0.00001
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys) rs5745067 0.00001
NM_006231.4(POLE):c.6628A>C (p.Lys2210Gln) rs1284697545 0.00001
NM_006231.4(POLE):c.6734C>G (p.Thr2245Ser) rs747676884 0.00001
NM_006231.4(POLE):c.712A>T (p.Ile238Phe) rs536684123 0.00001
NM_006231.4(POLE):c.907C>T (p.Gln303Ter) rs749117997 0.00001
NM_006231.4(POLE):c.94C>T (p.Leu32Phe) rs781513537 0.00001
NM_006231.4(POLE):c.1138G>A (p.Gly380Ser) rs199746481
NM_006231.4(POLE):c.1171A>G (p.Lys391Glu)
NM_006231.4(POLE):c.1359+5G>A rs761564635
NM_006231.4(POLE):c.1651G>A (p.Val551Ile) rs2042956447
NM_006231.4(POLE):c.1693G>T (p.Ala565Ser) rs747247890
NM_006231.4(POLE):c.1708C>A (p.Leu570Met) rs748807227
NM_006231.4(POLE):c.1772A>G (p.Glu591Gly) rs1555228119
NM_006231.4(POLE):c.1802A>T (p.Asp601Val) rs2042862564
NM_006231.4(POLE):c.1915C>T (p.Arg639Cys) rs1565966539
NM_006231.4(POLE):c.1916G>A (p.Arg639His) rs754616313
NM_006231.4(POLE):c.1936G>A (p.Val646Met) rs2042855097
NM_006231.4(POLE):c.1991A>C (p.Gln664Pro) rs1401873092
NM_006231.4(POLE):c.2083T>C (p.Phe695Leu) rs5744799
NM_006231.4(POLE):c.2125G>A (p.Glu709Lys) rs1367402208
NM_006231.4(POLE):c.2371G>A (p.Val791Met)
NM_006231.4(POLE):c.2384A>G (p.Lys795Arg) rs867677414
NM_006231.4(POLE):c.2465_2467dup (p.Lys822_Gly823insGlu) rs1237046519
NM_006231.4(POLE):c.297del (p.Tyr100fs) rs2043138492
NM_006231.4(POLE):c.3310A>G (p.Thr1104Ala) rs2138663582
NM_006231.4(POLE):c.3446C>T (p.Ala1149Val) rs778212434
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.3725C>G (p.Ser1242Cys) rs373213156
NM_006231.4(POLE):c.4136C>T (p.Ala1379Val)
NM_006231.4(POLE):c.4153A>T (p.Asn1385Tyr) rs2042217919
NM_006231.4(POLE):c.4295C>T (p.Pro1432Leu) rs371712284
NM_006231.4(POLE):c.4510A>T (p.Ile1504Phe) rs1555222899
NM_006231.4(POLE):c.4513C>G (p.Pro1505Ala) rs878854873
NM_006231.4(POLE):c.4586T>C (p.Leu1529Pro)
NM_006231.4(POLE):c.4792A>C (p.Ser1598Arg) rs776538943
NM_006231.4(POLE):c.4802C>T (p.Pro1601Leu) rs1593731286
NM_006231.4(POLE):c.4823T>G (p.Leu1608Arg) rs1255478620
NM_006231.4(POLE):c.4844A>G (p.Asp1615Gly) rs2042174030
NM_006231.4(POLE):c.4888C>T (p.Arg1630Trp) rs148076304
NM_006231.4(POLE):c.5150A>G (p.Asn1717Ser) rs1028428160
NM_006231.4(POLE):c.5321A>G (p.Gln1774Arg)
NM_006231.4(POLE):c.5378+4C>T rs1565935556
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) rs868246375
NM_006231.4(POLE):c.575C>A (p.Ser192Tyr)
NM_006231.4(POLE):c.5794C>T (p.Arg1932Cys) rs879254168
NM_006231.4(POLE):c.5908T>C (p.Ser1970Pro) rs1258796672
NM_006231.4(POLE):c.6005-12G>T
NM_006231.4(POLE):c.6068C>A (p.Thr2023Asn) rs771628123
NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg) rs1462887616
NM_006231.4(POLE):c.6244G>A (p.Glu2082Lys) rs1285938402
NM_006231.4(POLE):c.6271C>T (p.Pro2091Ser) rs572252265
NM_006231.4(POLE):c.6308A>C (p.Glu2103Ala) rs1555220870
NM_006231.4(POLE):c.6322G>T (p.Val2108Leu) rs776551240
NM_006231.4(POLE):c.6334C>G (p.Leu2112Val) rs373443211
NM_006231.4(POLE):c.6483dup (p.Asn2162Ter) rs2041834385
NM_006231.4(POLE):c.6491G>A (p.Cys2164Tyr) rs750401329
NM_006231.4(POLE):c.6792C>G (p.His2264Gln) rs1396625189
NM_006231.4(POLE):c.73G>T (p.Ala25Ser) rs773204331
NM_006231.4(POLE):c.797G>A (p.Arg266Gln) rs115786159
NM_006231.4(POLE):c.80C>T (p.Ser27Phe) rs1593088347
NM_006231.4(POLE):c.929G>T (p.Arg310Met)
NM_006231.4(POLE):c.955G>A (p.Asp319Asn) rs116162724

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