ClinVar Miner

List of variants in gene POLG reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 217
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HGVS dbSNP
NM_002693.2(POLG):c.-80C>T rs3087378
NM_002693.2(POLG):c.1023+3G>A rs1555453800
NM_002693.2(POLG):c.1024-1G>C rs1567192203
NM_002693.2(POLG):c.1066C>T (p.Leu356=) rs371431444
NM_002693.2(POLG):c.1073del (p.Glu358fs) rs763418954
NM_002693.2(POLG):c.1097G>C (p.Gly366Ala) rs757315161
NM_002693.2(POLG):c.1126C>T (p.Leu376=) rs116165908
NM_002693.2(POLG):c.114G>T (p.Gly38=) rs794727268
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.1164C>T (p.Asn388=)
NM_002693.2(POLG):c.116A>G (p.Gln39Arg) rs749750052
NM_002693.2(POLG):c.1171-9T>C rs886044283
NM_002693.2(POLG):c.1174C>G (p.Leu392Val) rs145289229
NM_002693.2(POLG):c.119_121GGC[4] (p.Arg42dup) rs761080016
NM_002693.2(POLG):c.1214A>T (p.Glu405Val) rs1567191988
NM_002693.2(POLG):c.1244T>G (p.Leu415Trp)
NM_002693.2(POLG):c.1250+5G>T rs751221993
NM_002693.2(POLG):c.1251G>A (p.Arg417=) rs1567191509
NM_002693.2(POLG):c.125_139del (p.Arg42_Gln46del)
NM_002693.2(POLG):c.1269T>A (p.Thr423=) rs886044670
NM_002693.2(POLG):c.126_128GCA[10] (p.Gln55del) rs41550117
NM_002693.2(POLG):c.126_128GCA[12] (p.Gln55dup) rs41550117
NM_002693.2(POLG):c.126_128GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.2(POLG):c.126_128GCA[4] (p.Gln49_Gln55del) rs41550117
NM_002693.2(POLG):c.126_128GCA[5] (p.Gln50_Gln55del) rs41550117
NM_002693.2(POLG):c.126_128GCA[6] (p.Gln51_Gln55del) rs41550117
NM_002693.2(POLG):c.126_128GCA[7] (p.Gln52_Gln55del) rs41550117
NM_002693.2(POLG):c.126_128GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.2(POLG):c.126_128GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.2(POLG):c.1275C>T (p.Ala425=) rs147404477
NM_002693.2(POLG):c.128A>G (p.Gln43Arg) rs28567406
NM_002693.2(POLG):c.128A>T (p.Gln43Leu)
NM_002693.2(POLG):c.129G>A (p.Gln43=)
NM_002693.2(POLG):c.131A>G (p.Gln44Arg) rs757120802
NM_002693.2(POLG):c.1321T>G (p.Trp441Gly) rs1567191437
NM_002693.2(POLG):c.134A>G (p.Gln45Arg) rs201016638
NM_002693.2(POLG):c.1356T>C (p.Tyr452=) rs3176179
NM_002693.2(POLG):c.1368G>A (p.Gln456=) rs1555453664
NM_002693.2(POLG):c.137A>G (p.Gln46Arg) rs1555454339
NM_002693.2(POLG):c.1386G>A (p.Ser462=) rs62640034
NM_002693.2(POLG):c.1389G>A (p.Leu463=) rs150828914
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.1420C>A (p.Leu474Ile) rs1555453653
NM_002693.2(POLG):c.1545C>T (p.Ile515=) rs537156830
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.155_166del (p.Gln52_Gln55del) rs761909257
NM_002693.2(POLG):c.1570C>G (p.Pro524Ala) rs577476988
NM_002693.2(POLG):c.1580A>T (p.Gln527Leu) rs1567191079
NM_002693.2(POLG):c.158_166del (p.Gln53_Gln55del) rs769735492
NM_002693.2(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.2(POLG):c.160C>T (p.Gln54Ter)
NM_002693.2(POLG):c.1626T>C (p.Asp542=)
NM_002693.2(POLG):c.1636C>G (p.Arg546Gly)
NM_002693.2(POLG):c.1637G>A (p.Arg546His) rs773418477
NM_002693.2(POLG):c.1639G>A (p.Ala547Thr)
NM_002693.2(POLG):c.1648C>G (p.Gln550Glu) rs1227630175
NM_002693.2(POLG):c.1669G>C (p.Glu557Gln) rs1481695998
NM_002693.2(POLG):c.1712+5G>A
NM_002693.2(POLG):c.1723A>C (p.Lys575Gln) rs1379482879
NM_002693.2(POLG):c.1736G>A (p.Arg579Gln)
NM_002693.2(POLG):c.1743C>T (p.Asp581=) rs140743000
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.2(POLG):c.1782G>A (p.Leu594=) rs1419141450
NM_002693.2(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.2(POLG):c.180A>G (p.Gln60=) rs1555454318
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.1842C>T (p.Tyr614=)
NM_002693.2(POLG):c.1850G>A (p.Arg617His) rs779961986
NM_002693.2(POLG):c.186A>G (p.Leu62=) rs745310138
NM_002693.2(POLG):c.1890C>T (p.Asn630=) rs148658588
NM_002693.2(POLG):c.1894G>A (p.Ala632Thr)
NM_002693.2(POLG):c.1898A>C (p.Lys633Thr) rs568913937
NM_002693.2(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002693.2(POLG):c.1905G>T (p.Pro635=) rs550592814
NM_002693.2(POLG):c.1912A>G (p.Thr638Ala) rs1567190199
NM_002693.2(POLG):c.1929T>C (p.Ala643=)
NM_002693.2(POLG):c.1950-10C>T rs749522324
NM_002693.2(POLG):c.1956C>T (p.Ile652=) rs757860628
NM_002693.2(POLG):c.1977C>T (p.His659=)
NM_002693.2(POLG):c.1980T>C (p.Cys660=)
NM_002693.2(POLG):c.1983C>T (p.Leu661=) rs948431638
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) rs2307450
NM_002693.2(POLG):c.1991G>A (p.Gly664Glu) rs773073959
NM_002693.2(POLG):c.2019C>T (p.Ala673=) rs557179508
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) rs200257554
NM_002693.2(POLG):c.2026G>A (p.Ala676Thr) rs752293938
NM_002693.2(POLG):c.2027C>T (p.Ala676Val) rs376306906
NM_002693.2(POLG):c.2028G>A (p.Ala676=) rs373550219
NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) rs776848222
NM_002693.2(POLG):c.2133A>G (p.Ala711=) rs1567188446
NM_002693.2(POLG):c.2146C>T (p.Pro716Ser) rs796052883
NM_002693.2(POLG):c.2149C>T (p.Leu717=) rs779515404
NM_002693.2(POLG):c.2152G>T (p.Ala718Ser) rs755783536
NM_002693.2(POLG):c.2158-10G>A rs1555453090
NM_002693.2(POLG):c.215A>G (p.Asn72Ser) rs796052897
NM_002693.2(POLG):c.2165G>A (p.Arg722His) rs185645212
NM_002693.2(POLG):c.2177A>G (p.Lys726Arg) rs774599342
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.2209G>A (p.Gly737Arg)
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2220C>T (p.Asn740=) rs141538857
NM_002693.2(POLG):c.2221G>A (p.Asp741Asn) rs751736420
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2264A>C (p.Lys755Thr) rs770438363
NM_002693.2(POLG):c.2277C>T (p.Ser759=) rs1567187853
NM_002693.2(POLG):c.2369G>A (p.Arg790His) rs191490663
NM_002693.2(POLG):c.237C>G (p.Leu79=)
NM_002693.2(POLG):c.2481-10A>C rs555280530
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.2487C>T (p.Pro829=) rs147563527
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.24G>C (p.Lys8Asn) rs886044323
NM_002693.2(POLG):c.2541C>T (p.Ala847=) rs143810171
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2596C>T (p.Arg866Trp) rs748777396
NM_002693.2(POLG):c.2599-10C>T rs769346219
NM_002693.2(POLG):c.2601T>C (p.Pro867=) rs201749977
NM_002693.2(POLG):c.2632G>T (p.Val878Leu) rs886043661
NM_002693.2(POLG):c.2636A>G (p.Gln879Arg) rs368587966
NM_002693.2(POLG):c.2642C>T (p.Pro881Leu) rs375935084
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2653A>G (p.Thr885Ala) rs1312677626
NM_002693.2(POLG):c.2704C>G (p.Leu902Val)
NM_002693.2(POLG):c.2724C>T (p.Ala908=) rs377390914
NM_002693.2(POLG):c.2733T>G (p.His911Gln) rs1057524425
NM_002693.2(POLG):c.2735-7C>G rs200372494
NM_002693.2(POLG):c.2739C>T (p.Cys913=) rs1555452807
NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) rs139590686
NM_002693.2(POLG):c.2808C>G (p.Ala936=) rs1370721886
NM_002693.2(POLG):c.2830G>A (p.Glu944Lys) rs768653086
NM_002693.2(POLG):c.2831A>G (p.Glu944Gly) rs1555452777
NM_002693.2(POLG):c.2853C>T (p.Tyr951=) rs41546712
NM_002693.2(POLG):c.2857C>T (p.Arg953Cys) rs11546842
NM_002693.2(POLG):c.2865T>C (p.Tyr955=) rs1567186574
NM_002693.2(POLG):c.2870C>T (p.Ala957Val) rs753160398
NM_002693.2(POLG):c.2878C>T (p.Pro960Ser)
NM_002693.2(POLG):c.2880C>T (p.Pro960=) rs752500492
NM_002693.2(POLG):c.2884G>A (p.Ala962Thr)
NM_002693.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_002693.2(POLG):c.2915G>A (p.Arg972Gln) rs200309005
NM_002693.2(POLG):c.2923_2925CAG[1] (p.Gln976del) rs1567186518
NM_002693.2(POLG):c.2943G>T (p.Lys981Asn) rs1567186502
NM_002693.2(POLG):c.2977C>T (p.Arg993Cys) rs551811489
NM_002693.2(POLG):c.2986C>T (p.Arg996Trp) rs202229893
NM_002693.2(POLG):c.2987G>A (p.Arg996Gln) rs770236576
NM_002693.2(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.2(POLG):c.2994G>T (p.Ser998=) rs567030498
NM_002693.2(POLG):c.3012G>T (p.Leu1004=)
NM_002693.2(POLG):c.3014T>G (p.Val1005Gly) rs201204229
NM_002693.2(POLG):c.3024G>A (p.Leu1008=)
NM_002693.2(POLG):c.3046G>A (p.Glu1016Lys) rs763290547
NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) rs551708243
NM_002693.2(POLG):c.3104+2T>A rs747632869
NM_002693.2(POLG):c.3104+8C>A rs754615624
NM_002693.2(POLG):c.3105G>A (p.Lys1035=) rs1567185643
NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) rs150233690
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) rs201192905
NM_002693.2(POLG):c.3197C>T (p.Thr1066Met) rs750794449
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.3216C>G (p.Thr1072=) rs146936870
NM_002693.2(POLG):c.3222G>T (p.Val1074=) rs746773616
NM_002693.2(POLG):c.3258G>A (p.Ser1086=)
NM_002693.2(POLG):c.3286C>G (p.Arg1096Gly) rs201732356
NM_002693.2(POLG):c.3286C>T (p.Arg1096Cys) rs201732356
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.328C>T (p.His110Tyr) rs139599587
NM_002693.2(POLG):c.32G>A rs765472726
NM_002693.2(POLG):c.330C>T (p.His110=) rs376266682
NM_002693.2(POLG):c.3383G>A (p.Arg1128His) rs1405268319
NM_002693.2(POLG):c.33C>T (p.Gly11=) rs1482684558
NM_002693.2(POLG):c.3424C>T (p.Arg1142Trp) rs2307442
NM_002693.2(POLG):c.3425G>A (p.Arg1142Gln) rs536732038
NM_002693.2(POLG):c.3444C>T (p.Arg1148=) rs374937961
NM_002693.2(POLG):c.3450C>T (p.Ala1150=) rs774880085
NM_002693.2(POLG):c.3468C>T (p.Thr1156=)
NM_002693.2(POLG):c.347C>A (p.Pro116Gln) rs747828222
NM_002693.2(POLG):c.3480C>T (p.Thr1160=) rs1057521589
NM_002693.2(POLG):c.3482+6C>T rs55779802
NM_002693.2(POLG):c.3482+7G>A rs200309191
NM_002693.2(POLG):c.3511A>C (p.Asn1171His) rs1567184138
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) rs369544574
NM_002693.2(POLG):c.3560G>A (p.Arg1187Gln)
NM_002693.2(POLG):c.3609_3612dup (p.Gly1205fs) rs886043241
NM_002693.2(POLG):c.360G>T (p.Leu120Phe) rs886043905
NM_002693.2(POLG):c.3630C>T (p.Tyr1210=)
NM_002693.2(POLG):c.3643+2T>C rs1335880349
NM_002693.2(POLG):c.391T>C (p.Tyr131His) rs562847013
NM_002693.2(POLG):c.408C>G (p.Asp136Glu) rs115109291
NM_002693.2(POLG):c.418C>T (p.Arg140Cys) rs761248036
NM_002693.2(POLG):c.423C>T (p.Leu141=)
NM_002693.2(POLG):c.468G>A (p.Leu156=) rs1567194019
NM_002693.2(POLG):c.501G>A (p.Pro167=) rs886044612
NM_002693.2(POLG):c.522C>G (p.Gly174=) rs766842881
NM_002693.2(POLG):c.547G>C (p.Glu183Gln) rs762582785
NM_002693.2(POLG):c.578G>A (p.Arg193Gln) rs3176162
NM_002693.2(POLG):c.581C>T (p.Ala194Val) rs779122022
NM_002693.2(POLG):c.584T>C (p.Leu195Pro) rs794727267
NM_002693.2(POLG):c.603C>T (p.Val201=) rs768005050
NM_002693.2(POLG):c.656C>T (p.Ala219Val) rs1245083459
NM_002693.2(POLG):c.678G>C (p.Gln226His) rs147282197
NM_002693.2(POLG):c.67G>C (p.Gly23Arg) rs1422899388
NM_002693.2(POLG):c.739C>G (p.Leu247Val)
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.798G>T (p.Val266=) rs143631183
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.2(POLG):c.855G>C (p.Gln285His) rs141367015
NM_002693.2(POLG):c.856-5_856-3delCTC rs200056162
NM_002693.2(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002693.2(POLG):c.948G>A (p.Lys316=) rs61756401
NM_002693.2(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.2(POLG):c.975C>A (p.Pro325=) rs551973680
NM_002693.2(POLG):c.983A>G (p.Gln328Arg) rs886043556

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