ClinVar Miner

List of variants in gene POLE reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
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.6531+5G>A rs368538240 0.00013
NM_006231.4(POLE):c.1064A>G (p.Lys355Arg) rs141396559 0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.6050G>A (p.Arg2017His) rs144178150 0.00011
NM_006231.4(POLE):c.2773T>C (p.Ser925Pro) rs141552148 0.00010
NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu) rs772734618 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.431A>G (p.His144Arg) rs755709875 0.00009
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys) rs150564856 0.00008
NM_006231.4(POLE):c.4736G>A (p.Arg1579His) rs375590443 0.00008
NM_006231.4(POLE):c.3230G>A (p.Arg1077His) rs768950975 0.00007
NM_006231.4(POLE):c.4285A>T (p.Thr1429Ser) rs759497382 0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 0.00006
NM_006231.4(POLE):c.3857G>A (p.Arg1286His) rs771823596 0.00005
NM_006231.4(POLE):c.2131T>C (p.Ser711Pro) rs374800058 0.00004
NM_006231.4(POLE):c.2770C>T (p.Arg924Cys) rs369751686 0.00004
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser) rs150545516 0.00004
NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr) rs748522633 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.5662G>A (p.Glu1888Lys) rs368363850 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_006231.4(POLE):c.6476G>A (p.Arg2159His) rs373092830 0.00004
NM_006231.4(POLE):c.1108C>A (p.Pro370Thr) rs576578672 0.00003
NM_006231.4(POLE):c.2276G>A (p.Arg759His) rs746774432 0.00003
NM_006231.4(POLE):c.274A>C (p.Ser92Arg) rs758382516 0.00003
NM_006231.4(POLE):c.4145G>A (p.Arg1382His) rs143229302 0.00003
NM_006231.4(POLE):c.6049C>T (p.Arg2017Cys) rs115452769 0.00003
NM_006231.4(POLE):c.1940A>T (p.Asp647Val) rs1060500884 0.00002
NM_006231.4(POLE):c.3989C>T (p.Pro1330Leu) rs1409584745 0.00002
NM_006231.4(POLE):c.4270G>A (p.Glu1424Lys) rs575419120 0.00002
NM_006231.4(POLE):c.4759G>A (p.Val1587Ile) rs372388555 0.00002
NM_006231.4(POLE):c.5267T>A (p.Ile1756Asn) rs199535980 0.00002
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666 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.6796G>A (p.Gly2266Ser) rs200911338 0.00002
NM_006231.4(POLE):c.724C>T (p.His242Tyr) rs148525573 0.00002
NM_006231.4(POLE):c.1041G>T (p.Trp347Cys) rs1048183984 0.00001
NM_006231.4(POLE):c.109C>T (p.Arg37Trp) rs753101641 0.00001
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg) rs750826256 0.00001
NM_006231.4(POLE):c.198G>A (p.Met66Ile) rs764962999 0.00001
NM_006231.4(POLE):c.2020G>A (p.Glu674Lys) rs779458859 0.00001
NM_006231.4(POLE):c.2113C>T (p.Arg705Trp) rs200621883 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.266A>C (p.Asp89Ala) rs756843283 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.4172C>G (p.Ser1391Cys) rs149145495 0.00001
NM_006231.4(POLE):c.4276G>A (p.Val1426Ile) rs775072147 0.00001
NM_006231.4(POLE):c.5035C>T (p.Arg1679Cys) rs768244569 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006231.4(POLE):c.6073G>A (p.Val2025Met) rs995579204 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.68A>G (p.Asp23Gly) rs765898876 0.00001
NM_006231.4(POLE):c.1772A>G (p.Glu591Gly) rs1555228119
NM_006231.4(POLE):c.1784A>G (p.Asn595Ser) rs969500436
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.2090C>T (p.Pro697Leu) rs36120395
NM_006231.4(POLE):c.2359G>A (p.Asp787Asn) rs878854851
NM_006231.4(POLE):c.2362G>A (p.Ala788Thr) rs896350761
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.3652G>A (p.Val1218Ile) rs756246229
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
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.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4802C>T (p.Pro1601Leu) rs1593731286
NM_006231.4(POLE):c.4888C>T (p.Arg1630Trp) rs148076304
NM_006231.4(POLE):c.5525ACA[1] (p.Asn1843del) rs868246375
NM_006231.4(POLE):c.575C>T (p.Ser192Phe) rs1060500891
NM_006231.4(POLE):c.6483dup (p.Asn2162Ter) rs2041834385
NM_006231.4(POLE):c.73G>T (p.Ala25Ser) rs773204331
NM_006231.4(POLE):c.955G>A (p.Asp319Asn) rs116162724

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