ClinVar Miner

Variants in gene POLG with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
562 134 8 94 92 0 38 181

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 7 27 24 1 1
likely pathogenic 27 0 25 0 0
uncertain significance 24 25 0 85 40
likely benign 1 0 85 0 67
benign 1 0 40 67 1

All variants with conflicting interpretations #

Total variants: 181
Download table as spreadsheet
HGVS dbSNP
NM_002693.2(POLG):c.1066C>T (p.Leu356=) rs371431444
NM_002693.2(POLG):c.1126C>T (p.Leu376=) rs116165908
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.116A>G (p.Gln39Arg) rs749750052
NM_002693.2(POLG):c.1174C>G (p.Leu392Val) rs145289229
NM_002693.2(POLG):c.1251G>A (p.Arg417=)
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) rs1064795354
NM_002693.2(POLG):c.1275C>T (p.Ala425=) rs147404477
NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) rs775576189
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.1356T>C (p.Tyr452=) rs3176179
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.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.1491G>C (p.Gln497His) rs121918052
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.153G>A (p.Gln51=) rs1453538834
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.156_158dupGCA (p.Gln55_Pro56insGln) rs41550117
NM_002693.2(POLG):c.1585+11T>C rs201566815
NM_002693.2(POLG):c.158_159delAAinsCT (p.Gln53Pro) rs1064795981
NM_002693.2(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) rs2307447
NM_002693.2(POLG):c.1674C>G (p.Leu558=) rs552085869
NM_002693.2(POLG):c.1712+10G>A rs55962804
NM_002693.2(POLG):c.1713-5C>T rs148494026
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.1761G>A (p.Pro587=) rs374805003
NM_002693.2(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.2(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.2(POLG):c.1790G>A (p.Arg597Gln)
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.186A>G (p.Leu62=) rs745310138
NM_002693.2(POLG):c.1874C>T (p.Pro625Leu) rs1064794214
NM_002693.2(POLG):c.1880G>A (p.Arg627Gln) rs375305567
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.1943C>G (p.Pro648Arg) rs796052906
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.1950-9T>C rs780378329
NM_002693.2(POLG):c.1956C>T (p.Ile652=) rs757860628
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) rs2307450
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.2027C>T (p.Ala676Val) rs376306906
NM_002693.2(POLG):c.2028G>A (p.Ala676=) rs373550219
NM_002693.2(POLG):c.2071-14T>G rs150088708
NM_002693.2(POLG):c.2109C>A (p.Ala703=) rs2307429
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+15G>A rs766521182
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
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.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2254C>T (p.Leu752=) rs41564016
NM_002693.2(POLG):c.2264A>C (p.Lys755Thr) rs770438363
NM_002693.2(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.2(POLG):c.2392A>C (p.Ile798Leu) rs796052873
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) rs769827124
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.2541C>T (p.Ala847=) rs143810171
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2557C>T (p.Arg853Trp) rs121918053
NM_002693.2(POLG):c.2599-10C>T rs769346219
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.2620T>A (p.Leu874Met) rs758402960
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>G (p.Phe88Leu) rs144439703
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.2(POLG):c.2665G>A (p.Ala889Thr) rs763393580
NM_002693.2(POLG):c.2724C>T (p.Ala908=) rs377390914
NM_002693.2(POLG):c.2735-7C>G rs200372494
NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) rs139590686
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.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.2(POLG):c.2870C>T (p.Ala957Val) rs753160398
NM_002693.2(POLG):c.2880C>T (p.Pro960=) rs752500492
NM_002693.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_002693.2(POLG):c.2982-3C>T rs538731397
NM_002693.2(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.2(POLG):c.3075G>A (p.Leu1025=) rs146404260
NM_002693.2(POLG):c.3104+8C>A rs754615624
NM_002693.2(POLG):c.3105-16_3105-15delGT rs146915033
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3151G>A (p.Gly1051Arg)
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
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.3273+6T>A rs886051522
NM_002693.2(POLG):c.3274-19G>A rs116925016
NM_002693.2(POLG):c.3274-4C>T rs760343963
NM_002693.2(POLG):c.3285C>G (p.Ser1095Arg) rs761649878
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.3294T>C (p.Asn1098=) rs374224714
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)
NM_002693.2(POLG):c.3405C>T (p.Asp1135=) rs2307445
NM_002693.2(POLG):c.3409dupG (p.Val1137Glyfs) rs1555452461
NM_002693.2(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.2(POLG):c.3424C>T (p.Arg1142Trp) rs2307442
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
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.3483-2A>G rs1057518035
NM_002693.2(POLG):c.3516C>G (p.Asp1172Glu) rs766196697
NM_002693.2(POLG):c.3519G>A (p.Leu1173=) rs953889846
NM_002693.2(POLG):c.3527C>T (p.Ser1176Leu) rs776031396
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.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.2(POLG):c.3586G>A (p.Asp1196Asn) rs765344513
NM_002693.2(POLG):c.3640C>T (p.Gln1214Ter) rs781256643
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.409C>T (p.Gln137Ter) rs1057517891
NM_002693.2(POLG):c.488C>T (p.Pro163Leu) rs752892262
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.678G>C (p.Gln226His) rs147282197
NM_002693.2(POLG):c.679C>T (p.Arg227Trp) rs121918056
NM_002693.2(POLG):c.695G>A (p.Arg232His) rs113994093
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.852C>T (p.Ile284=) rs41540414
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.911T>G (p.Leu304Arg) rs121918044
NM_002693.2(POLG):c.915C>G (p.Ser305Arg) rs769410130
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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