ClinVar Miner

Variants in gene POLE with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 107
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HGVS dbSNP
NM_006231.3(POLE):c.1007A>G (p.Asn336Ser) rs5744760
NM_006231.3(POLE):c.1106+7C>A rs369889926
NM_006231.3(POLE):c.123G>A (p.Thr41=) rs5744734
NM_006231.3(POLE):c.1323G>A (p.Pro441=) rs116573514
NM_006231.3(POLE):c.1347G>A (p.Thr449=) rs142373951
NM_006231.3(POLE):c.1359+18C>T rs5744775
NM_006231.3(POLE):c.1359+9G>A rs75135381
NM_006231.3(POLE):c.1360-6C>T rs139836643
NM_006231.3(POLE):c.1405C>T (p.Leu469=) rs368303888
NM_006231.3(POLE):c.1470C>T (p.Asp490=) rs5744777
NM_006231.3(POLE):c.155G>A (p.Arg52Gln) rs372459649
NM_006231.3(POLE):c.1560A>G (p.Gln520=) rs201841065
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.1740C>T (p.His580=) rs114972594
NM_006231.3(POLE):c.1781C>T (p.Thr594Ile) rs574033788
NM_006231.3(POLE):c.1794+5C>T rs200095915
NM_006231.3(POLE):c.1924-6T>C rs755311168
NM_006231.3(POLE):c.2026+9C>T rs373790607
NM_006231.3(POLE):c.207C>T (p.Thr69=) rs146986360
NM_006231.3(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.3(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.3(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.3(POLE):c.2106G>T (p.Gly702=) rs5744801
NM_006231.3(POLE):c.2262C>T (p.Tyr754=) rs145337550
NM_006231.3(POLE):c.2271C>T (p.Thr757=) rs765532123
NM_006231.3(POLE):c.2340G>A (p.Ser780=) rs5744822
NM_006231.3(POLE):c.2468+10C>T rs5744823
NM_006231.3(POLE):c.2550C>T (p.Ile850=) rs5744834
NM_006231.3(POLE):c.2561+6T>C rs116231808
NM_006231.3(POLE):c.2781C>T (p.Asn927=) rs775486303
NM_006231.3(POLE):c.2886C>T (p.Asp962=) rs757682919
NM_006231.3(POLE):c.2935C>T (p.Leu979=) rs56081968
NM_006231.3(POLE):c.296C>T (p.Pro99Leu) rs5744739
NM_006231.3(POLE):c.2982C>T (p.Leu994=) rs771463033
NM_006231.3(POLE):c.3090C>T (p.Phe1030=) rs766306895
NM_006231.3(POLE):c.3126G>A (p.Lys1042=) rs5744856
NM_006231.3(POLE):c.3265_3275+15dup rs1555225627
NM_006231.3(POLE):c.3275+12_3275+37del rs1057517627
NM_006231.3(POLE):c.3275+16A>G rs5744858
NM_006231.3(POLE):c.3378+10A>G rs193075152
NM_006231.3(POLE):c.3378+7G>T rs755370377
NM_006231.3(POLE):c.3615G>A (p.Pro1205=) rs560825851
NM_006231.3(POLE):c.3747G>A (p.Val1249=) rs80290414
NM_006231.3(POLE):c.3933T>C (p.Pro1311=) rs533545710
NM_006231.3(POLE):c.4047G>A (p.Ala1349=) rs201746181
NM_006231.3(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933
NM_006231.3(POLE):c.4236C>T (p.Asn1412=) rs377245595
NM_006231.3(POLE):c.4237G>A (p.Glu1413Lys) rs372901803
NM_006231.3(POLE):c.4245C>T (p.Asn1415=) rs778896278
NM_006231.3(POLE):c.4259C>T (p.Ala1420Val) rs41561818
NM_006231.3(POLE):c.4290+5C>T rs5744936
NM_006231.3(POLE):c.4494G>A (p.Ala1498=) rs777611171
NM_006231.3(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.3(POLE):c.4719C>T (p.Leu1573=) rs115219846
NM_006231.3(POLE):c.4730A>C (p.Glu1577Ala) rs5744948
NM_006231.3(POLE):c.4941C>T (p.Phe1647=) rs145639967
NM_006231.3(POLE):c.4952+17_4952+19dupCGT rs571641918
NM_006231.3(POLE):c.5124C>T (p.Phe1708=) rs114891564
NM_006231.3(POLE):c.5135C>T (p.Ala1712Val) rs5744950
NM_006231.3(POLE):c.519C>T (p.Ala173=) rs187690610
NM_006231.3(POLE):c.51C>G (p.Gly17=) rs780436496
NM_006231.3(POLE):c.5334C>T (p.Ala1778=) rs11146986
NM_006231.3(POLE):c.546C>T (p.His182=) rs115257501
NM_006231.3(POLE):c.5478G>T (p.Arg1826=) rs537648186
NM_006231.3(POLE):c.5496T>C (p.Leu1832=) rs147543146
NM_006231.3(POLE):c.555C>T (p.Asp185=) rs763871536
NM_006231.3(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.3(POLE):c.561C>T (p.Tyr187=) rs143938822
NM_006231.3(POLE):c.5678+4C>T rs5744973
NM_006231.3(POLE):c.5769C>T (p.Gly1923=) rs375198950
NM_006231.3(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991
NM_006231.3(POLE):c.5811+13C>T rs150195182
NM_006231.3(POLE):c.5811+16T>C rs115381003
NM_006231.3(POLE):c.6405C>T (p.Val2135=) rs139607077
NM_006231.3(POLE):c.6418G>A (p.Glu2140Lys) rs5745066
NM_006231.3(POLE):c.6453C>T (p.Tyr2151=) rs116076060
NM_006231.3(POLE):c.6494G>A (p.Arg2165His) rs5745068
NM_006231.3(POLE):c.6495C>T (p.Arg2165=) rs114778730
NM_006231.3(POLE):c.6539C>T (p.Ala2180Val) rs552452448
NM_006231.3(POLE):c.6576G>A (p.Ala2192=) rs368555884
NM_006231.3(POLE):c.6597C>T (p.Ile2199=) rs147611144
NM_006231.3(POLE):c.6657+9T>C rs375333174
NM_006231.3(POLE):c.6675C>T (p.Arg2225=) rs149973644
NM_006231.3(POLE):c.6714C>T (p.Cys2238=) rs200082120
NM_006231.3(POLE):c.6763A>T (p.Ile2255Phe) rs73155056
NM_006231.3(POLE):c.6766G>A (p.Gly2256Arg) rs116323660
NM_006231.3(POLE):c.6777G>T (p.Arg2259=) rs540203276
NM_006231.3(POLE):c.6795C>T (p.Tyr2265=) rs142222159
NM_006231.3(POLE):c.6817A>T (p.Thr2273Ser) rs73481453
NM_006231.3(POLE):c.6820C>G (p.Leu2274Val) rs148788180
NM_006231.3(POLE):c.6831G>T (p.Leu2277=) rs145427269
NM_006231.3(POLE):c.718G>C (p.Val240Leu) rs371882716
NM_006231.3(POLE):c.774C>G (p.Thr258=) rs149345392
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006231.3(POLE):c.779G>A (p.Arg260Gln) rs5744752
NM_006231.3(POLE):c.846C>T (p.Pro282=) rs5744758
NM_006231.3(POLE):c.84A>T (p.Ser28=) rs774280853
NM_006231.3(POLE):c.91G>T (p.Ala31Ser) rs34047482
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004
NM_006231.4(POLE):c.2174-8G>A rs117409343
NM_006231.4(POLE):c.2602C>T (p.Leu868=) rs115830215
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.4(POLE):c.3379-5T>C rs5744886
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.4(POLE):c.6004+5G>T rs372169366
NM_006231.4(POLE):c.6331-8C>T rs769766403
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637

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