ClinVar Miner

List of variants in gene POLE reported as likely benign by Sema4, Sema4

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Gene type:
ClinVar version:
Total variants: 111
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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.2561+6T>C rs116231808 0.00179
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_006231.4(POLE):c.296C>T (p.Pro99Leu) rs5744739 0.00127
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
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.4534G>A (p.Val1512Ile) rs147354120 0.00053
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
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.3881G>A (p.Arg1294His) rs115455318 0.00041
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) rs113998091 0.00034
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
NM_006231.4(POLE):c.4941C>T (p.Phe1647=) rs145639967 0.00027
NM_006231.4(POLE):c.1405C>T (p.Leu469=) rs368303888 0.00025
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3716A>G (p.Gln1239Arg) rs146210785 0.00016
NM_006231.4(POLE):c.252C>T (p.Tyr84=) rs148838481 0.00015
NM_006231.4(POLE):c.1583C>T (p.Thr528Met) rs116263919 0.00014
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_006231.4(POLE):c.2935C>T (p.Leu979=) rs56081968 0.00013
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser) rs757559474 0.00012
NM_006231.4(POLE):c.1590C>T (p.Asp530=) rs1040269464 0.00011
NM_006231.4(POLE):c.3411G>A (p.Leu1137=) rs368920055 0.00011
NM_006231.4(POLE):c.3670G>T (p.Ala1224Ser) rs369338222 0.00011
NM_006231.4(POLE):c.3671C>T (p.Ala1224Val) rs375208564 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys) rs143247306 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu) rs772734618 0.00010
NM_006231.4(POLE):c.3049C>T (p.Leu1017=) rs371831931 0.00009
NM_006231.4(POLE):c.5769C>T (p.Gly1923=) rs375198950 0.00009
NM_006231.4(POLE):c.2481C>T (p.Tyr827=) rs149513974 0.00008
NM_006231.4(POLE):c.2172G>A (p.Ala724=) rs372240734 0.00007
NM_006231.4(POLE):c.3230G>A (p.Arg1077His) rs768950975 0.00007
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795 0.00007
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_006231.4(POLE):c.3462A>T (p.Val1154=) rs756940534 0.00006
NM_006231.4(POLE):c.4494G>A (p.Ala1498=) rs777611171 0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 0.00006
NM_006231.4(POLE):c.1924-6del rs758112633 0.00005
NM_006231.4(POLE):c.5238C>T (p.Asn1746=) rs200128464 0.00005
NM_006231.4(POLE):c.3183C>T (p.Ala1061=) rs751756901 0.00004
NM_006231.4(POLE):c.3912C>T (p.Pro1304=) rs116482376 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.4267A>G (p.Ile1423Val) rs139498590 0.00004
NM_006231.4(POLE):c.5174-6G>C rs770466844 0.00004
NM_006231.4(POLE):c.5412G>A (p.Lys1804=) rs144218410 0.00004
NM_006231.4(POLE):c.6018C>T (p.Ala2006=) rs111709550 0.00004
NM_006231.4(POLE):c.762G>A (p.Pro254=) rs371334601 0.00004
NM_006231.4(POLE):c.558G>C (p.Ala186=) rs764758303 0.00003
NM_006231.4(POLE):c.5736A>G (p.Glu1912=) rs369755963 0.00003
NM_006231.4(POLE):c.1089C>T (p.Asn363=) rs146639652 0.00002
NM_006231.4(POLE):c.1137C>T (p.His379=) rs376333939 0.00002
NM_006231.4(POLE):c.1227-8C>T rs537816213 0.00002
NM_006231.4(POLE):c.2792T>C (p.Phe931Ser) rs376546593 0.00002
NM_006231.4(POLE):c.306G>A (p.Pro102=) rs759888478 0.00002
NM_006231.4(POLE):c.3270G>A (p.Thr1090=) rs758258927 0.00002
NM_006231.4(POLE):c.3777C>T (p.Pro1259=) rs770904877 0.00002
NM_006231.4(POLE):c.3913G>A (p.Gly1305Arg) rs563990655 0.00002
NM_006231.4(POLE):c.4308G>C (p.Arg1436=) rs367898059 0.00002
NM_006231.4(POLE):c.4353G>A (p.Leu1451=) rs769149466 0.00002
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666 0.00002
NM_006231.4(POLE):c.552C>T (p.Ser184=) rs878854884 0.00002
NM_006231.4(POLE):c.6666G>A (p.Leu2222=) rs777438368 0.00002
NM_006231.4(POLE):c.910-5G>A rs750101293 0.00002
NM_006231.4(POLE):c.1014C>T (p.Pro338=) rs143102561 0.00001
NM_006231.4(POLE):c.1308C>T (p.Pro436=) rs755627156 0.00001
NM_006231.4(POLE):c.1926C>T (p.Pro642=) rs779747873 0.00001
NM_006231.4(POLE):c.2316C>T (p.His772=) rs768883555 0.00001
NM_006231.4(POLE):c.2540G>A (p.Arg847Gln) rs534297483 0.00001
NM_006231.4(POLE):c.3108C>T (p.Asn1036=) rs772522635 0.00001
NM_006231.4(POLE):c.3582+6G>A rs113307290 0.00001
NM_006231.4(POLE):c.3999T>A (p.Ile1333=) rs929039052 0.00001
NM_006231.4(POLE):c.4455C>T (p.Arg1485=) rs750833365 0.00001
NM_006231.4(POLE):c.4527G>A (p.Arg1509=) rs767676720 0.00001
NM_006231.4(POLE):c.5173+11G>A rs201001062 0.00001
NM_006231.4(POLE):c.5205C>T (p.Ala1735=) rs778829972 0.00001
NM_006231.4(POLE):c.5454G>A (p.Val1818=) rs1046972573 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.6846A>C (p.Pro2282=) rs1369939692 0.00001
NM_006231.4(POLE):c.84A>T (p.Ser28=) rs774280853 0.00001
NM_006231.4(POLE):c.996T>C (p.Phe332=) rs779159186 0.00001
NM_006231.4(POLE):c.1106+11G>T rs2136010805
NM_006231.4(POLE):c.1360-10C>G rs1480904053
NM_006231.4(POLE):c.1695C>A (p.Ala565=) rs139748472
NM_006231.4(POLE):c.1695C>T (p.Ala565=) rs139748472
NM_006231.4(POLE):c.2058C>A (p.Ile686=) rs140254249
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2130G>A (p.Leu710=) rs77327458
NM_006231.4(POLE):c.3387T>C (p.Asp1129=) rs371357642
NM_006231.4(POLE):c.4635C>T (p.Leu1545=) rs199945393
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.4647C>A (p.Pro1549=) rs1004972253
NM_006231.4(POLE):c.4932G>T (p.Ser1644=) rs1057522607
NM_006231.4(POLE):c.4992C>T (p.Ile1664=) rs1555222515
NM_006231.4(POLE):c.5037C>A (p.Arg1679=) rs1057523897
NM_006231.4(POLE):c.510C>T (p.Ile170=) rs374074035
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.810G>A (p.Val270=) rs973650664
NM_006231.4(POLE):c.819A>G (p.Ala273=) rs1185171180

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