ClinVar Miner

List of variants in gene POLE reported by Mendelics

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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_006231.4(POLE):c.296C>T (p.Pro99Leu) rs5744739 0.00127
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163 0.00040
NM_006231.4(POLE):c.2602C>T (p.Leu868=) rs115830215 0.00035
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) rs113998091 0.00034
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser) rs137860861 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) rs115558715 0.00020
NM_006231.4(POLE):c.1597G>A (p.Val533Met) rs374140892 0.00018
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu) rs373768478 0.00018
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.3862G>A (p.Ala1288Thr) rs200398117 0.00016
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
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.926A>G (p.Asn309Ser) rs767060387 0.00008
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.3054C>T (p.Tyr1018=) rs201249963 0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 0.00006
NM_006231.4(POLE):c.1735C>T (p.Arg579Cys) rs116260568 0.00005
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser) rs539312991 0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442 0.00005
NM_006231.4(POLE):c.3939G>A (p.Thr1313=) rs150282789 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 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.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_006231.4(POLE):c.1021-11C>T rs781431436 0.00003
NM_006231.4(POLE):c.3090C>T (p.Phe1030=) rs766306895 0.00003
NM_006231.4(POLE):c.3228C>T (p.Cys1076=) rs767929667 0.00003
NM_006231.4(POLE):c.1717C>T (p.Arg573Trp) rs373000452 0.00002
NM_006231.4(POLE):c.2099C>T (p.Pro700Leu) rs777002868 0.00002
NM_006231.4(POLE):c.2209A>G (p.Thr737Ala) rs779102091 0.00002
NM_006231.4(POLE):c.2527A>G (p.Ile843Val) rs780758461 0.00002
NM_006231.4(POLE):c.5843A>G (p.Asp1948Gly) rs372504703 0.00002
NM_006231.4(POLE):c.1359+4C>T rs752118019 0.00001
NM_006231.4(POLE):c.1741G>T (p.Ala581Ser) rs755090755 0.00001
NM_006231.4(POLE):c.1846C>T (p.Arg616Cys) rs752076074 0.00001
NM_006231.4(POLE):c.2342C>T (p.Ala781Val) rs1060500855 0.00001
NM_006231.4(POLE):c.3276-30C>T rs773248517 0.00001
NM_006231.4(POLE):c.3582+7G>A rs558837073 0.00001
NM_006231.4(POLE):c.3722A>C (p.Glu1241Ala) rs755166232 0.00001
NM_006231.4(POLE):c.3865C>T (p.Arg1289Cys) rs770036124 0.00001
NM_006231.4(POLE):c.3866G>A (p.Arg1289His) rs781298285 0.00001
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys) rs985504177 0.00001
NM_006231.4(POLE):c.4480C>G (p.Gln1494Glu) rs1443837551 0.00001
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met) rs777695766 0.00001
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048 0.00001
NM_006231.4(POLE):c.5429A>T (p.His1810Leu) rs777390504 0.00001
NM_006231.4(POLE):c.5575C>G (p.Leu1859Val) rs184253572 0.00001
NM_006231.4(POLE):c.5678+3G>A rs1060500826 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr) rs58916399 0.00001
NM_006231.4(POLE):c.6196A>G (p.Ile2066Val) rs1266801207 0.00001
NM_006231.4(POLE):c.6433C>T (p.Arg2145Ter) rs1451513451 0.00001
NM_006231.4(POLE):c.6540G>A (p.Ala2180=) rs746976542 0.00001
NM_006231.4(POLE):c.6583G>A (p.Asp2195Asn) rs1472336573 0.00001
NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp) rs866548835 0.00001
NM_006231.4(POLE):c.1229G>A (p.Trp410Ter) rs2136000948
NM_006231.4(POLE):c.1264C>G (p.His422Asp) rs745356467
NM_006231.4(POLE):c.1520T>C (p.Val507Ala) rs904849438
NM_006231.4(POLE):c.2065C>T (p.Gln689Ter) rs2042846526
NM_006231.4(POLE):c.2083T>C (p.Phe695Leu) rs5744799
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr) rs5744800
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2122C>T (p.His708Tyr) rs1593791799
NM_006231.4(POLE):c.2236A>G (p.Ile746Val) rs1480527153
NM_006231.4(POLE):c.2340G>C (p.Ser780=) rs5744822
NM_006231.4(POLE):c.2559del (p.Ile853fs) rs2135958060
NM_006231.4(POLE):c.2656C>T (p.Pro886Ser) rs1393738781
NM_006231.4(POLE):c.2811C>T (p.Tyr937=) rs1593777350
NM_006231.4(POLE):c.2865-17_2865-14dup rs369732588
NM_006231.4(POLE):c.2865-3C>T rs1203095918
NM_006231.4(POLE):c.2865-3_2865del rs1593776411
NM_006231.4(POLE):c.2867A>T (p.Tyr956Phe) rs1593776406
NM_006231.4(POLE):c.2869_2870del (p.Ala957fs) rs1593776393
NM_006231.4(POLE):c.2872G>T (p.Val958Leu) rs1443635519
NM_006231.4(POLE):c.2910_2917del (p.Phe971fs) rs2138691662
NM_006231.4(POLE):c.3082G>A (p.Glu1028Lys) rs2138678777
NM_006231.4(POLE):c.3275+38_3275+88del rs1565955594
NM_006231.4(POLE):c.3539AGA[2] (p.Lys1182del) rs1555225139
NM_006231.4(POLE):c.3582+34G>A rs753702996
NM_006231.4(POLE):c.3715C>G (p.Gln1239Glu) rs1565946576
NM_006231.4(POLE):c.4204G>A (p.Val1402Met) rs767191767
NM_006231.4(POLE):c.4270G>T (p.Glu1424Ter) rs575419120
NM_006231.4(POLE):c.427A>G (p.Asn143Asp) rs889470853
NM_006231.4(POLE):c.4286C>T (p.Thr1429Ile) rs2138558151
NM_006231.4(POLE):c.4476C>G (p.His1492Gln) rs5744943
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4642C>T (p.Pro1548Ser) rs1555222725
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.4754T>A (p.Ile1585Asn) rs1565937957
NM_006231.4(POLE):c.4945A>G (p.Met1649Val) rs1565937350
NM_006231.4(POLE):c.5029C>G (p.Leu1677Val) rs2138530978
NM_006231.4(POLE):c.5288A>G (p.Gln1763Arg) rs1565935906
NM_006231.4(POLE):c.5296del (p.Leu1766fs) rs2138524488
NM_006231.4(POLE):c.5494C>T (p.Leu1832Phe) rs1456049352
NM_006231.4(POLE):c.5573G>A (p.Arg1858His) rs1445288473
NM_006231.4(POLE):c.560A>G (p.Tyr187Cys) rs2043122011
NM_006231.4(POLE):c.5647G>A (p.Ala1883Thr) rs1565931961
NM_006231.4(POLE):c.5679-3C>T rs1555221512
NM_006231.4(POLE):c.5883GGA[3] (p.Glu1966del) rs757774039
NM_006231.4(POLE):c.6137-50C>T rs779908266
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.654dup (p.Val219fs) rs2136020791
NM_006231.4(POLE):c.6581A>G (p.Tyr2194Cys) rs1060500872
NM_006231.4(POLE):c.6747+5G>A rs1555300791
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.742T>C (p.Tyr248His) rs2136018785
NM_006231.4(POLE):c.769A>G (p.Ile257Val) rs1466704603
NM_006231.4(POLE):c.999dup (p.Val334fs) rs2043045437

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