ClinVar Miner

List of variants in gene POLG studied for not specified

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Gene type:
ClinVar version:
Total variants: 248
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HGVS dbSNP
NM_001126131.1(POLG):c.-174_-173delAGinsCC rs796052879
NM_002693.2(POLG):c.-159-18A>G rs1170795525
NM_002693.2(POLG):c.-159-6_-159-4delCTT rs1064794526
NM_002693.2(POLG):c.-170T>A rs796052915
NM_002693.2(POLG):c.-21G>T rs750010376
NM_002693.2(POLG):c.-28T>G rs1284152513
NM_002693.2(POLG):c.-48C>T rs1057521902
NM_002693.2(POLG):c.1002G>A (p.Arg334=) rs1057520944
NM_002693.2(POLG):c.101A>T (p.Asp34Val) rs779409525
NM_002693.2(POLG):c.1023+13T>G rs201874835
NM_002693.2(POLG):c.1024-15G>A rs1057523109
NM_002693.2(POLG):c.1066C>T (p.Leu356=) rs371431444
NM_002693.2(POLG):c.1098G>A (p.Gly366=) rs1195508608
NM_002693.2(POLG):c.1122A>G (p.Arg374=) rs372759057
NM_002693.2(POLG):c.1126C>T (p.Leu376=) rs116165908
NM_002693.2(POLG):c.1149G>A (p.Lys383=) rs767256165
NM_002693.2(POLG):c.116A>G (p.Gln39Arg) rs749750052
NM_002693.2(POLG):c.1170+18dup rs1274781490
NM_002693.2(POLG):c.1174C>G (p.Leu392Val) rs145289229
NM_002693.2(POLG):c.1236G>A (p.Pro412=) rs750875156
NM_002693.2(POLG):c.125G>A (p.Arg42Gln) rs74382477
NM_002693.2(POLG):c.125_127dupGGC (p.Arg42_Gln43insArg) rs761080016
NM_002693.2(POLG):c.125_139dupGGCAGCAGCAGCAGC (p.Gln46_Gln47insArgGlnGlnGlnGln) rs780010436
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.1311C>T (p.Val437=) rs62640035
NM_002693.2(POLG):c.131A>G (p.Gln44Arg) rs757120802
NM_002693.2(POLG):c.1328G>A (p.Arg443His) rs796052903
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.1381_1382delAAinsTC (p.Lys461Ser) rs796052920
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.138_158del21 (p.Gln49_Gln55del) rs41550117
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.141_158delGCAGCAGCAGCAGCAGCA (p.Gln50_Gln55del) rs41550117
NM_002693.2(POLG):c.141_158dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGln) rs41550117
NM_002693.2(POLG):c.1433+14G>A rs1057522174
NM_002693.2(POLG):c.1433+14G>C rs1057522174
NM_002693.2(POLG):c.1434-17G>A rs373716128
NM_002693.2(POLG):c.1434-18dupA rs1064795188
NM_002693.2(POLG):c.1446C>T (p.Asp482=) rs202053662
NM_002693.2(POLG):c.1449C>T (p.Pro483=) rs762247209
NM_002693.2(POLG):c.144_158delGCAGCAGCAGCAGCA (p.Gln51_Gln55del) rs41550117
NM_002693.2(POLG):c.144_158dupGCAGCAGCAGCAGCA (p.Gln55_Pro56insGlnGlnGlnGlnGln) rs41550117
NM_002693.2(POLG):c.147_158delGCAGCAGCAGCA (p.Gln52_Gln55del) rs41550117
NM_002693.2(POLG):c.147_158dup (p.Gln55_Pro56insGlnGlnGlnGln) rs41550117
NM_002693.2(POLG):c.1493A>C (p.Lys498Thr) rs769637557
NM_002693.2(POLG):c.1509_1510delGAinsTG (p.Lys504Glu) rs796052909
NM_002693.2(POLG):c.150G>A (p.Gln50=) rs766501874
NM_002693.2(POLG):c.150_158delGCAGCAGCA (p.Gln53_Gln55del) rs41550117
NM_002693.2(POLG):c.150_158dupGCAGCAGCA (p.Gln55_Pro56insGlnGlnGln) rs41550117
NM_002693.2(POLG):c.1515G>A (p.Lys505=) rs796052880
NM_002693.2(POLG):c.1524C>T (p.Ala508=) rs1057523450
NM_002693.2(POLG):c.153_158delGCAGCA (p.Gln54_Gln55del) rs41550117
NM_002693.2(POLG):c.153_158dupGCAGCA (p.Gln55_Pro56insGlnGln) rs41550117
NM_002693.2(POLG):c.1545C>T (p.Ile515=) rs537156830
NM_002693.2(POLG):c.154C>A (p.Gln52Lys) rs376683989
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.155_166delAGCAACAGCAGC (p.Gln52_Gln55del) rs761909257
NM_002693.2(POLG):c.156G>A (p.Gln52=) rs587781117
NM_002693.2(POLG):c.156_158delGCA (p.Gln55del) rs41550117
NM_002693.2(POLG):c.156_158dupGCA (p.Gln55_Pro56insGln) rs41550117
NM_002693.2(POLG):c.1585+11T>C rs201566815
NM_002693.2(POLG):c.1585+15T>G rs534475232
NM_002693.2(POLG):c.1588C>T (p.Leu530Phe) rs1024469208
NM_002693.2(POLG):c.158_159delAAinsCT (p.Gln53Pro) rs1064795981
NM_002693.2(POLG):c.158_159insGCAGCAACA (p.Gln55_Pro56insGlnGlnGln) rs1555454333
NM_002693.2(POLG):c.158_166delAACAGCAGC (p.Gln53_Gln55del) rs769735492
NM_002693.2(POLG):c.1596C>T (p.Pro532=) rs199856571
NM_002693.2(POLG):c.1599C>G (p.Cys533Trp) rs754246294
NM_002693.2(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.2(POLG):c.159_161dup (p.Gln55_Pro56insGln) rs768088414
NM_002693.2(POLG):c.1612_1613delGAinsTT (p.Glu538Leu) rs796052921
NM_002693.2(POLG):c.1620A>G (p.Gln540=) rs958701683
NM_002693.2(POLG):c.1629C>T (p.Val543=) rs56349446
NM_002693.2(POLG):c.162G>A (p.Gln54=) rs796052878
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) rs2307447
NM_002693.2(POLG):c.1638C>T (p.Arg546=) rs772461291
NM_002693.2(POLG):c.164_165insACAGCA (p.Gln55_Pro56insGlnGln) rs760135553
NM_002693.2(POLG):c.1674C>G (p.Leu558=) rs552085869
NM_002693.2(POLG):c.1712+10G>A rs55962804
NM_002693.2(POLG):c.1713-12G>A rs1057521595
NM_002693.2(POLG):c.1713-5C>T rs148494026
NM_002693.2(POLG):c.1743C>T (p.Asp581=) rs140743000
NM_002693.2(POLG):c.1752A>C (p.Ala584=) rs150929445
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.1761G>A (p.Pro587=) rs374805003
NM_002693.2(POLG):c.1764C>T (p.Gly588=) rs753839110
NM_002693.2(POLG):c.176C>T (p.Pro59Leu) rs1057518590
NM_002693.2(POLG):c.177G>T (p.Pro59=) rs372383277
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.1850G>A (p.Arg617His) rs779961986
NM_002693.2(POLG):c.1867T>C (p.Leu623=) rs548491099
NM_002693.2(POLG):c.186A>G (p.Leu62=) rs745310138
NM_002693.2(POLG):c.1872G>A (p.Val624=) rs765506021
NM_002693.2(POLG):c.1883G>A (p.Arg628Gln) rs201871736
NM_002693.2(POLG):c.1887C>T (p.Asp629=) rs886051524
NM_002693.2(POLG):c.1890C>T (p.Asn630=) rs148658588
NM_002693.2(POLG):c.1898A>C (p.Lys633Thr) rs568913937
NM_002693.2(POLG):c.1904C>T (p.Pro635Leu) rs773994204
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.1949+20G>C rs371964664
NM_002693.2(POLG):c.1949+3A>G rs1057523710
NM_002693.2(POLG):c.1950-10C>T rs749522324
NM_002693.2(POLG):c.1950-11T>C rs1285620593
NM_002693.2(POLG):c.1950-13G>C rs577747971
NM_002693.2(POLG):c.1950-9T>C rs780378329
NM_002693.2(POLG):c.1952C>A (p.Ala651Asp) rs1555453197
NM_002693.2(POLG):c.1956C>T (p.Ile652=) rs757860628
NM_002693.2(POLG):c.1965G>A (p.Leu655=) rs543910258
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) rs2307450
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) rs200257554
NM_002693.2(POLG):c.2028G>A (p.Ala676=) rs373550219
NM_002693.2(POLG):c.2038C>T (p.Leu680=) rs373066911
NM_002693.2(POLG):c.2051A>G (p.Asn684Ser) rs202244328
NM_002693.2(POLG):c.2070+14C>G rs1057520351
NM_002693.2(POLG):c.2071-14T>G rs150088708
NM_002693.2(POLG):c.2109C>A (p.Ala703=) rs2307429
NM_002693.2(POLG):c.2109C>T (p.Ala703=) rs2307429
NM_002693.2(POLG):c.2118G>A (p.Glu706=) rs748699275
NM_002693.2(POLG):c.2121C>A (p.Asn707Lys) rs755502359
NM_002693.2(POLG):c.2149C>T (p.Leu717=) rs779515404
NM_002693.2(POLG):c.2157+11C>T rs56411159
NM_002693.2(POLG):c.2157+12G>A rs762919106
NM_002693.2(POLG):c.2157+15G>A rs766521182
NM_002693.2(POLG):c.2157+8G>T rs548035719
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.21G>A (p.Arg7=) rs1057523280
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.220T>C (p.Leu74=) rs1241802528
NM_002693.2(POLG):c.2220C>T (p.Asn740=) rs141538857
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2254C>T (p.Leu752=) rs41564016
NM_002693.2(POLG):c.2265+6T>A rs746650160
NM_002693.2(POLG):c.2266-19C>T rs780096431
NM_002693.2(POLG):c.2304G>A (p.Lys768=) rs1555453001
NM_002693.2(POLG):c.2372_2373delCTinsTC (p.Ala791Val) rs1555452985
NM_002693.2(POLG):c.2392A>C (p.Ile798Leu) rs796052873
NM_002693.2(POLG):c.2427-12C>G rs199815957
NM_002693.2(POLG):c.2427-17G>A rs775367938
NM_002693.2(POLG):c.2427-18C>A rs762498573
NM_002693.2(POLG):c.2468G>A (p.Arg823His) rs751172552
NM_002693.2(POLG):c.2480+17G>A rs762669285
NM_002693.2(POLG):c.2481-10A>C rs555280530
NM_002693.2(POLG):c.2481-6C>T rs752226219
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.2499G>A (p.Glu833=) rs1209332881
NM_002693.2(POLG):c.2509T>C (p.Tyr837His) rs544828395
NM_002693.2(POLG):c.2510A>G (p.Tyr837Cys) rs778190998
NM_002693.2(POLG):c.2511T>C (p.Tyr837=) rs1555452884
NM_002693.2(POLG):c.2541C>T (p.Ala847=) rs143810171
NM_002693.2(POLG):c.2597G>A (p.Arg866Gln) rs779723962
NM_002693.2(POLG):c.2598+15T>G rs1057520997
NM_002693.2(POLG):c.2599-10C>T rs769346219
NM_002693.2(POLG):c.2599-14C>T rs587781115
NM_002693.2(POLG):c.2601T>C (p.Pro867=) rs201749977
NM_002693.2(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.2(POLG):c.2613C>T (p.Gly871=) rs372878701
NM_002693.2(POLG):c.2620T>A (p.Leu874Met) rs758402960
NM_002693.2(POLG):c.2640C>T (p.Ala880=) rs1236111354
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2724C>T (p.Ala908=) rs377390914
NM_002693.2(POLG):c.2734+12_2734+13delCCinsG rs1555452821
NM_002693.2(POLG):c.2734+16G>A rs1057523737
NM_002693.2(POLG):c.2735-15C>T rs41544115
NM_002693.2(POLG):c.2735-17T>G rs1057521939
NM_002693.2(POLG):c.2735-7C>G rs200372494
NM_002693.2(POLG):c.2814T>C (p.Thr938=) rs771822843
NM_002693.2(POLG):c.2853C>T (p.Tyr951=) rs41546712
NM_002693.2(POLG):c.2880C>T (p.Pro960=) rs752500492
NM_002693.2(POLG):c.2982-3C>T rs538731397
NM_002693.2(POLG):c.2986C>T (p.Arg996Trp) rs202229893
NM_002693.2(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.2(POLG):c.3030C>T (p.Leu1010=) rs760607209
NM_002693.2(POLG):c.3075G>A (p.Leu1025=) rs146404260
NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) rs551708243
NM_002693.2(POLG):c.3104+8C>A rs754615624
NM_002693.2(POLG):c.3105-16_3105-15delGT rs146915033
NM_002693.2(POLG):c.3105-5C>T rs759708686
NM_002693.2(POLG):c.3105-8T>A rs765339818
NM_002693.2(POLG):c.3167A>C (p.Glu1056Ala) rs768571276
NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) rs201192905
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.3234C>T (p.Cys1078=) rs749440761
NM_002693.2(POLG):c.3273+5C>T rs1555452510
NM_002693.2(POLG):c.3274-19G>A rs116925016
NM_002693.2(POLG):c.3274-4C>T rs760343963
NM_002693.2(POLG):c.3282C>G (p.Thr1094=) rs773093823
NM_002693.2(POLG):c.3294T>C (p.Asn1098=) rs374224714
NM_002693.2(POLG):c.32G>A rs765472726
NM_002693.2(POLG):c.3323A>G (p.Tyr1108Cys) rs765949668
NM_002693.2(POLG):c.3333C>T (p.Leu1111=) rs755854894
NM_002693.2(POLG):c.333G>T (p.Gly111=) rs56221189
NM_002693.2(POLG):c.3363A>G (p.Glu1121=) rs773341540
NM_002693.2(POLG):c.336C>G (p.Leu112=) rs1057521700
NM_002693.2(POLG):c.3405C>T (p.Asp1135=) rs2307445
NM_002693.2(POLG):c.3409dupG (p.Val1137Glyfs) rs1555452461
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.3451C>T (p.Leu1151=) rs769193603
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.3483-14T>C rs587781119
NM_002693.2(POLG):c.3483-17G>C rs1053731071
NM_002693.2(POLG):c.3483-19T>G rs2307438
NM_002693.2(POLG):c.3498C>T (p.Tyr1166=) rs1427798436
NM_002693.2(POLG):c.3519G>A (p.Leu1173=) rs953889846
NM_002693.2(POLG):c.3549C>T (p.Val1183=) rs777231247
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) rs369544574
NM_002693.2(POLG):c.3561G>C (p.Arg1187=) rs62640037
NM_002693.2(POLG):c.3564C>T (p.Cys1188=) rs146584956
NM_002693.2(POLG):c.3582C>T (p.Thr1194=) rs1555452247
NM_002693.2(POLG):c.3597C>A (p.Thr1199=) rs2307443
NM_002693.2(POLG):c.381G>T (p.Leu127=) rs1057524724
NM_002693.2(POLG):c.384G>T (p.Pro128=) rs558958919
NM_002693.2(POLG):c.391T>C (p.Tyr131His) rs562847013
NM_002693.2(POLG):c.39C>T (p.Thr13=) rs535213599
NM_002693.2(POLG):c.489C>T (p.Pro163=) rs1057520491
NM_002693.2(POLG):c.559G>C (p.Val187Leu) rs1555454261
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.603C>T (p.Val201=) rs768005050
NM_002693.2(POLG):c.60A>G (p.Pro20=) rs944054671
NM_002693.2(POLG):c.659+11G>T rs3087379
NM_002693.2(POLG):c.659+16delG rs745807900
NM_002693.2(POLG):c.659+6T>C rs1429417228
NM_002693.2(POLG):c.660-11A>G rs369731644
NM_002693.2(POLG):c.723G>A (p.Pro241=) rs1057522857
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.826G>A (p.Ala276Thr) rs778531134
NM_002693.2(POLG):c.852C>T (p.Ile284=) rs41540414
NM_002693.2(POLG):c.856-11C>T rs375058609
NM_002693.2(POLG):c.856-5_856-3delCTC rs200056162
NM_002693.2(POLG):c.87C>T (p.Ser29=) rs587781116
NM_002693.2(POLG):c.948G>A (p.Lys316=) rs61756401
NM_002693.2(POLG):c.970C>A (p.Pro324Thr) rs2307437
NM_002693.2(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.2(POLG):c.975C>A (p.Pro325=) rs551973680

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