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:

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 per condition Variants with at least 2 submissions on the same condition 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 conflict
2001 292 0 133 90 0 66 227

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 0 64 28 1 1
likely pathogenic 64 0 58 4 1
uncertain significance 28 58 0 84 39
likely benign 1 4 84 0 69
benign 1 1 39 69 0

All variants with conflicting interpretations #

Total variants: 227
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_002693.3(POLG):c.2266-76T>C rs3176203 0.05599
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_002693.3(POLG):c.2109C>A (p.Ala703=) rs2307429 0.00845
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys) rs2307447 0.00542
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_002693.3(POLG):c.-80C>T rs3087378 0.00435
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_002693.3(POLG):c.852C>T (p.Ile284=) rs41540414 0.00315
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00182
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.2426+27G>A rs72762657 0.00157
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00151
NM_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00139
NM_002693.3(POLG):c.1585+11T>C rs201566815 0.00126
NM_002693.3(POLG):c.2735-7C>G rs200372494 0.00121
NM_002693.3(POLG):c.1949+20G>C rs371964664 0.00117
NM_002693.3(POLG):c.2982-30G>A rs76339822 0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00093
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00076
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_002693.3(POLG):c.1386G>A (p.Ser462=) rs62640034 0.00061
NM_002693.3(POLG):c.1712+10G>A rs55962804 0.00057
NM_002693.3(POLG):c.1275C>T (p.Ala425=) rs147404477 0.00056
NM_002693.3(POLG):c.798G>T (p.Val266=) rs143631183 0.00056
NM_002693.3(POLG):c.3274-19G>A rs116925016 0.00043
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_002693.3(POLG):c.2071-14T>G rs150088708 0.00032
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00031
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00025
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_002693.3(POLG):c.3482+7G>A rs200309191 0.00024
NM_002693.3(POLG):c.2149C>T (p.Leu717=) rs779515404 0.00021
NM_002693.3(POLG):c.1743C>T (p.Asp581=) rs140743000 0.00019
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_002693.3(POLG):c.2028G>A (p.Ala676=) rs373550219 0.00017
NM_002693.3(POLG):c.1356T>C (p.Tyr452=) rs3176179 0.00016
NM_002693.3(POLG):c.2157+11C>T rs56411159 0.00014
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_002693.3(POLG):c.1066C>T (p.Leu356=) rs371431444 0.00011
NM_002693.3(POLG):c.1389G>A (p.Leu463=) rs150828914 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_002693.3(POLG):c.3294T>C (p.Asn1098=) rs374224714 0.00011
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_002693.3(POLG):c.1842C>T (p.Tyr614=) rs62640033 0.00009
NM_002693.3(POLG):c.2220C>T (p.Asn740=) rs141538857 0.00009
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_002693.3(POLG):c.1977C>T (p.His659=) rs62640030 0.00008
NM_002693.3(POLG):c.2157+15G>A rs766521182 0.00008
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) rs375935084 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_002693.3(POLG):c.3075G>A (p.Leu1025=) rs146404260 0.00008
NM_002693.3(POLG):c.1545C>T (p.Ile515=) rs537156830 0.00007
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr) rs568913937 0.00007
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser) rs202244328 0.00007
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg) rs368587966 0.00007
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp) rs369544574 0.00007
NM_002693.3(POLG):c.1950-9T>C rs780378329 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_002693.3(POLG):c.2601T>C (p.Pro867=) rs201749977 0.00006
NM_002693.3(POLG):c.3216C>G (p.Thr1072=) rs146936870 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_002693.3(POLG):c.3405C>T (p.Asp1135=) rs2307445 0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) rs753416225 0.00006
NM_002693.3(POLG):c.1311C>T (p.Val437=) rs62640035 0.00005
NM_002693.3(POLG):c.1761G>A (p.Pro587=) rs374805003 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_002693.3(POLG):c.2880C>T (p.Pro960=) rs752500492 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_002693.3(POLG):c.3450C>T (p.Ala1150=) rs774880085 0.00005
NM_002693.3(POLG):c.1713-5C>T rs148494026 0.00004
NM_002693.3(POLG):c.2487C>T (p.Pro829=) rs147563527 0.00004
NM_002693.3(POLG):c.2599-10C>T rs769346219 0.00004
NM_002693.3(POLG):c.3222G>T (p.Val1074=) rs746773616 0.00004
NM_002693.3(POLG):c.3444C>T (p.Arg1148=) rs374937961 0.00004
NM_002693.3(POLG):c.3451C>T (p.Leu1151=) rs769193603 0.00004
NM_002693.3(POLG):c.1780C>T (p.Leu594=) rs778172428 0.00003
NM_002693.3(POLG):c.1956C>T (p.Ile652=) rs757860628 0.00003
NM_002693.3(POLG):c.2019C>T (p.Ala673=) rs557179508 0.00003
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr) rs770438363 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) rs121918049 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002693.3(POLG):c.3480C>T (p.Thr1160=) rs1057521589 0.00003
NM_002693.3(POLG):c.3519G>A (p.Leu1173=) rs953889846 0.00003
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro) rs763205408 0.00003
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00003
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1250+5G>T rs751221993 0.00002
NM_002693.3(POLG):c.1626T>C (p.Asp542=) rs376576519 0.00002
NM_002693.3(POLG):c.1713-4G>A rs201857960 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_002693.3(POLG):c.1929T>C (p.Ala643=) rs745800212 0.00002
NM_002693.3(POLG):c.2040G>A (p.Leu680=) rs367740265 0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) rs763393580 0.00002
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg) rs765916932 0.00002
NM_002693.3(POLG):c.2870C>T (p.Ala957Val) rs753160398 0.00002
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg) rs142347031 0.00002
NM_002693.3(POLG):c.3104+8C>A rs754615624 0.00002
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser) rs548076633 0.00002
NM_002693.3(POLG):c.3549C>T (p.Val1183=) rs777231247 0.00002
NM_002693.3(POLG):c.3564C>T (p.Cys1188=) rs146584956 0.00002
NM_002693.3(POLG):c.3612T>A (p.Thr1204=) rs1300892439 0.00002
NM_002693.3(POLG):c.3630C>T (p.Tyr1210=) rs139562274 0.00002
NM_002693.3(POLG):c.1251G>A (p.Arg417=) rs1567191509 0.00001
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro) rs774610098 0.00001
NM_002693.3(POLG):c.1433+2T>C rs920850257 0.00001
NM_002693.3(POLG):c.1599C>G (p.Cys533Trp) rs754246294 0.00001
NM_002693.3(POLG):c.1629C>T (p.Val543=) rs56349446 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) rs556925652 0.00001
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln) rs1001570418 0.00001
NM_002693.3(POLG):c.1887C>T (p.Asp629=) rs886051524 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.2480+17G>A rs762669285 0.00001
NM_002693.3(POLG):c.2481-6C>T rs752226219 0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) rs796052888 0.00001
NM_002693.3(POLG):c.2563G>T (p.Val855Leu) rs771254207 0.00001
NM_002693.3(POLG):c.2564T>C (p.Val855Ala) rs963553787 0.00001
NM_002693.3(POLG):c.2573C>T (p.Thr858Ile) rs759128787 0.00001
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) rs778429780 0.00001
NM_002693.3(POLG):c.2620T>A (p.Leu874Met) rs758402960 0.00001
NM_002693.3(POLG):c.2657T>C (p.Leu886Pro) rs769210629 0.00001
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro) rs121918051 0.00001
NM_002693.3(POLG):c.3024G>A (p.Leu1008=) rs139488968 0.00001
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly) rs1567185468 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_002693.3(POLG):c.3258G>A (p.Ser1086=) rs763312940 0.00001
NM_002693.3(POLG):c.3273+6T>A rs886051522 0.00001
NM_002693.3(POLG):c.3273+8G>A rs776468044 0.00001
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg) rs761649878 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.3347T>C (p.Met1116Thr) rs764036283 0.00001
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys) rs56047213 0.00001
NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile) rs1278715599 0.00001
NM_002693.3(POLG):c.3483-4_3497del rs756325504 0.00001
NM_002693.3(POLG):c.3488T>C (p.Met1163Thr) rs113994100 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_002693.3(POLG):c.3516C>G (p.Asp1172Glu) rs766196697 0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn) rs149921636 0.00001
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn) rs765344513 0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) rs781256643 0.00001
NM_002693.3(POLG):c.3643+5G>C rs752712345 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His) rs780953863 0.00001
NM_002693.3(POLG):c.955A>G (p.Lys319Glu) rs766465907 0.00001
NM_002693.3(POLG):c.1251-5C>T rs199621975
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.1575_1578del (p.Met525fs) rs1253517114
NM_002693.3(POLG):c.1674C>G (p.Leu558=) rs552085869
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter) rs767709505
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.3(POLG):c.1818del (p.Trp607fs) rs2055505065
NM_002693.3(POLG):c.1862G>A (p.Gly621Asp) rs1567190247
NM_002693.3(POLG):c.1874C>T (p.Pro625Leu) rs1064794214
NM_002693.3(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002693.3(POLG):c.1905G>T (p.Pro635=) rs550592814
NM_002693.3(POLG):c.1950-10C>T rs749522324
NM_002693.3(POLG):c.2109C>T (p.Ala703=) rs2307429
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys) rs755502359
NM_002693.3(POLG):c.2217_2230dup (p.Ile744fs) rs1282521429
NM_002693.3(POLG):c.2255T>C (p.Leu752Pro) rs2055426653
NM_002693.3(POLG):c.2265+1G>A rs796052884
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg) rs1567187837
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.3(POLG):c.2395del (p.Ser799fs) rs796052919
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del) rs1596353095
NM_002693.3(POLG):c.2481-10A>C rs555280530
NM_002693.3(POLG):c.2591A>T (p.Asn864Ile) rs121918050
NM_002693.3(POLG):c.2605C>T (p.Arg869Ter) rs751376824
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.3(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser) rs531744363
NM_002693.3(POLG):c.2862C>G (p.Ile954Met) rs2152060967
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser) rs121918051
NM_002693.3(POLG):c.2884dup (p.Ala962fs) rs1252078081
NM_002693.3(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.3(POLG):c.2994G>T (p.Ser998=) rs567030498
NM_002693.3(POLG):c.3104+2_3104+5del rs761664802
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3167A>C (p.Glu1056Ala) rs768571276
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup) rs1064794213
NM_002693.3(POLG):c.3287G>T (p.Arg1096Leu) rs368435864
NM_002693.3(POLG):c.3294T>G (p.Asn1098Lys) rs374224714
NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys) rs1010372555
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer) rs1064793800
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.3(POLG):c.3482+2T>C rs1466226819
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.3483-13_3483-10dup rs1324794268
NM_002693.3(POLG):c.3483-14T>C rs587781119
NM_002693.3(POLG):c.3483-2A>G rs1057518035
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs) rs1596348547
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs) rs2509185174
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.3(POLG):c.3601del (p.Ser1201fs) rs781311846
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs) rs886043241
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala) rs772737979
NM_002693.3(POLG):c.799G>C (p.Val267Leu) rs1567192788
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.856-17CTC[6] rs200056162
NM_002693.3(POLG):c.970C>A (p.Pro324Thr) rs2307437
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.3(POLG):c.975C>A (p.Pro325=) rs551973680
NM_002693.3(POLG):c.975C>G (p.Pro325=) rs551973680

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