ClinVar Miner

List of variants in gene POLE reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_006231.4(POLE):c.6766G>A (p.Gly2256Arg) rs116323660 0.00402
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_006231.4(POLE):c.779G>A (p.Arg260Gln) rs5744752 0.00312
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.1347G>A (p.Thr449=) rs142373951 0.00094
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
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.5496T>C (p.Leu1832=) rs147543146 0.00029
NM_006231.4(POLE):c.4941C>T (p.Phe1647=) rs145639967 0.00027
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.672C>T (p.Tyr224=) rs376923206 0.00022
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_006231.4(POLE):c.6006G>A (p.Ala2002=) rs146902214 0.00019
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr) rs200398117 0.00016
NM_006231.4(POLE):c.252C>T (p.Tyr84=) rs148838481 0.00015
NM_006231.4(POLE):c.1740C>T (p.His580=) rs114972594 0.00014
NM_006231.4(POLE):c.1559A>G (p.Gln520Arg) rs780865223 0.00012
NM_006231.4(POLE):c.1590C>T (p.Asp530=) rs1040269464 0.00011
NM_006231.4(POLE):c.1738C>A (p.His580Asn) rs371149234 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.1905C>T (p.Ile635=) rs145203544 0.00009
NM_006231.4(POLE):c.3049C>T (p.Leu1017=) rs371831931 0.00009
NM_006231.4(POLE):c.4047G>A (p.Ala1349=) rs201746181 0.00009
NM_006231.4(POLE):c.5769C>T (p.Gly1923=) rs375198950 0.00009
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.3459+8C>T rs375852759 0.00006
NM_006231.4(POLE):c.594C>T (p.Gly198=) rs140185156 0.00006
NM_006231.4(POLE):c.6039C>T (p.Asp2013=) rs371563366 0.00006
NM_006231.4(POLE):c.6810C>T (p.Leu2270=) rs757092767 0.00006
NM_006231.4(POLE):c.5238C>T (p.Asn1746=) rs200128464 0.00005
NM_006231.4(POLE):c.6124G>A (p.Gly2042Arg) rs147954675 0.00005
NM_006231.4(POLE):c.6606G>A (p.Thr2202=) rs11146982 0.00005
NM_006231.4(POLE):c.2053C>T (p.Arg685Trp) rs116326665 0.00004
NM_006231.4(POLE):c.3939G>A (p.Thr1313=) rs150282789 0.00004
NM_006231.4(POLE):c.5412G>A (p.Lys1804=) rs144218410 0.00004
NM_006231.4(POLE):c.555C>T (p.Asp185=) rs763871536 0.00004
NM_006231.4(POLE):c.6012C>T (p.Ile2004=) rs147806951 0.00004
NM_006231.4(POLE):c.6018C>T (p.Ala2006=) rs111709550 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_006231.4(POLE):c.6508T>C (p.Cys2170Arg) rs138094751 0.00004
NM_006231.4(POLE):c.1389T>C (p.Ala463=) rs1014643567 0.00003
NM_006231.4(POLE):c.3441C>T (p.Ile1147=) rs748278223 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_006231.4(POLE):c.3777C>T (p.Pro1259=) rs770904877 0.00002
NM_006231.4(POLE):c.4738C>T (p.Arg1580Trp) rs192908615 0.00002
NM_006231.4(POLE):c.6417C>T (p.Ser2139=) rs766935890 0.00002
NM_006231.4(POLE):c.1308C>T (p.Pro436=) rs755627156 0.00001
NM_006231.4(POLE):c.2377C>T (p.Arg793Cys) rs376624527 0.00001
NM_006231.4(POLE):c.2409G>A (p.Ser803=) rs369150359 0.00001
NM_006231.4(POLE):c.3768G>A (p.Gly1256=) rs776702809 0.00001
NM_006231.4(POLE):c.4659C>T (p.Phe1553=) rs767021717 0.00001
NM_006231.4(POLE):c.5130C>T (p.Asp1710=) rs1340452589 0.00001
NM_006231.4(POLE):c.5805T>C (p.Cys1935=) rs1593715281 0.00001
NM_006231.4(POLE):c.6156G>A (p.Gln2052=) rs149841283 0.00001
NM_006231.4(POLE):c.6210T>A (p.Ile2070=) rs139990705 0.00001
NM_006231.4(POLE):c.631A>T (p.Ile211Leu) rs1064796126 0.00001
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys) rs5745067 0.00001
NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp) rs866548835 0.00001
NM_006231.4(POLE):c.808G>A (p.Val270Met) rs374237142 0.00001
NM_006231.4(POLE):c.1125G>A (p.Arg375=)
NM_006231.4(POLE):c.1270C>G (p.Leu424Val) rs483352909
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.1718G>A (p.Arg573Gln) rs1054837169
NM_006231.4(POLE):c.1764G>T (p.Val588=) rs1373188053
NM_006231.4(POLE):c.1893C>T (p.Tyr631=) rs2135979111
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2362G>A (p.Ala788Thr) rs896350761
NM_006231.4(POLE):c.2485A>G (p.Met829Val) rs762395135
NM_006231.4(POLE):c.286-8_286-7del rs2043139110
NM_006231.4(POLE):c.3252C>T (p.Pro1084=) rs556962209
NM_006231.4(POLE):c.3748C>T (p.Pro1250Ser) rs769323549
NM_006231.4(POLE):c.4053T>G (p.Val1351=) rs2138598991
NM_006231.4(POLE):c.407A>T (p.Lys136Ile) rs752771738
NM_006231.4(POLE):c.4229A>C (p.His1410Pro) rs1313711311
NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs) rs758487568
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs) rs1593733806
NM_006231.4(POLE):c.4549A>C (p.Thr1517Pro) rs1161811592
NM_006231.4(POLE):c.4582G>T (p.Ala1528Ser) rs373468985
NM_006231.4(POLE):c.4952+6C>G
NM_006231.4(POLE):c.5379-5_5384del rs1593722216
NM_006231.4(POLE):c.5553-6C>T rs1555221787
NM_006231.4(POLE):c.6134C>G (p.Pro2045Arg) rs1555220951
NM_006231.4(POLE):c.6237C>T (p.Asn2079=) rs1349472933
NM_006231.4(POLE):c.6442T>C (p.Cys2148Arg) rs2041835652
NM_006231.4(POLE):c.6446G>A (p.Arg2149His) rs201165149
NM_006231.4(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.735T>C (p.Asn245=) rs774730133
NM_006231.4(POLE):c.771C>T (p.Ile257=)
NM_006231.4(POLE):c.819A>G (p.Ala273=) rs1185171180

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