ClinVar Miner

List of variants in gene POLG reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_002693.3(POLG):c.2369G>A (p.Arg790His) rs191490663 0.00021
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_002693.3(POLG):c.1842C>T (p.Tyr614=) rs62640033 0.00009
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) rs201192905 0.00009
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) rs375935084 0.00008
NM_002693.3(POLG):c.744G>C (p.Glu248Asp) rs753407311 0.00008
NM_002693.3(POLG):c.1904C>T (p.Pro635Leu) rs773994204 0.00007
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala) rs757315161 0.00006
NM_002693.3(POLG):c.1591G>A (p.Gly531Ser) rs796052904 0.00006
NM_002693.3(POLG):c.2878C>T (p.Pro960Ser) rs373298169 0.00006
NM_002693.3(POLG):c.1499C>A (p.Ala500Asp) rs780901280 0.00005
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp) rs78347903 0.00005
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) rs536732038 0.00005
NM_002693.3(POLG):c.2069C>T (p.Thr690Met) rs201677865 0.00004
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu) rs776848222 0.00004
NM_002693.3(POLG):c.2101G>A (p.Ala701Thr) rs747214857 0.00004
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys) rs1032930719 0.00004
NM_002693.3(POLG):c.2743G>A (p.Ala915Thr) rs764464230 0.00004
NM_002693.3(POLG):c.863G>A (p.Arg288His) rs796052902 0.00004
NM_002693.3(POLG):c.1235C>T (p.Pro412Leu) rs587780420 0.00003
NM_002693.3(POLG):c.1493A>C (p.Lys498Thr) rs769637557 0.00003
NM_002693.3(POLG):c.1498G>A (p.Ala500Thr) rs745506700 0.00003
NM_002693.3(POLG):c.1627G>A (p.Val543Ile) rs763775923 0.00003
NM_002693.3(POLG):c.2020G>A (p.Gly674Ser) rs538978071 0.00003
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.2146C>T (p.Pro716Ser) rs796052883 0.00003
NM_002693.3(POLG):c.2152G>T (p.Ala718Ser) rs755783536 0.00003
NM_002693.3(POLG):c.2446C>G (p.Leu816Val) rs748262645 0.00003
NM_002693.3(POLG):c.2596C>T (p.Arg866Trp) rs748777396 0.00003
NM_002693.3(POLG):c.2704C>G (p.Leu902Val) rs745528696 0.00003
NM_002693.3(POLG):c.2830G>A (p.Glu944Lys) rs768653086 0.00003
NM_002693.3(POLG):c.2884G>A (p.Ala962Thr) rs760305377 0.00003
NM_002693.3(POLG):c.2914C>T (p.Arg972Trp) rs762972003 0.00003
NM_002693.3(POLG):c.2959G>A (p.Ala987Thr) rs200258601 0.00003
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys) rs551811489 0.00003
NM_002693.3(POLG):c.2982-9T>G rs774707044 0.00003
NM_002693.3(POLG):c.2986C>T (p.Arg996Trp) rs202229893 0.00003
NM_002693.3(POLG):c.2987G>A (p.Arg996Gln) rs770236576 0.00003
NM_002693.3(POLG):c.3212G>A (p.Arg1071His) rs774851005 0.00003
NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser) rs530757118 0.00003
NM_002693.3(POLG):c.3239G>C (p.Ser1080Thr) rs779956099 0.00003
NM_002693.3(POLG):c.3266A>G (p.Gln1089Arg) rs369716454 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002693.3(POLG):c.3427G>C (p.Glu1143Gln) rs765123635 0.00003
NM_002693.3(POLG):c.3445G>A (p.Ala1149Thr) rs879135314 0.00003
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro) rs763205408 0.00003
NM_002693.3(POLG):c.895A>G (p.Met299Val) rs140262282 0.00003
NM_002693.3(POLG):c.1370G>A (p.Arg457Gln) rs372911506 0.00002
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala) rs767216577 0.00002
NM_002693.3(POLG):c.1744G>A (p.Asp582Asn) rs746560565 0.00002
NM_002693.3(POLG):c.1889A>G (p.Asn630Ser) rs796052905 0.00002
NM_002693.3(POLG):c.2026G>A (p.Ala676Thr) rs752293938 0.00002
NM_002693.3(POLG):c.2126G>A (p.Arg709Gln) rs1015705626 0.00002
NM_002693.3(POLG):c.2195A>G (p.Tyr732Cys) rs760305786 0.00002
NM_002693.3(POLG):c.2354G>A (p.Gly785Asp) rs149058889 0.00002
NM_002693.3(POLG):c.2368C>T (p.Arg790Cys) rs775168496 0.00002
NM_002693.3(POLG):c.2468G>A (p.Arg823His) rs751172552 0.00002
NM_002693.3(POLG):c.2597G>A (p.Arg866Gln) rs779723962 0.00002
NM_002693.3(POLG):c.2727C>T (p.Gly909=) rs752611524 0.00002
NM_002693.3(POLG):c.2948A>T (p.Gln983Leu) rs756679711 0.00002
NM_002693.3(POLG):c.2978G>A (p.Arg993His) rs546883829 0.00002
NM_002693.3(POLG):c.2993C>T (p.Ser998Leu) rs79840247 0.00002
NM_002693.3(POLG):c.2998G>A (p.Glu1000Lys) rs1412887168 0.00002
NM_002693.3(POLG):c.3076C>T (p.Arg1026Cys) rs760043525 0.00002
NM_002693.3(POLG):c.3077G>A (p.Arg1026His) rs777038915 0.00002
NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp) rs1381291951 0.00002
NM_002693.3(POLG):c.3382C>T (p.Arg1128Cys) rs755544706 0.00002
NM_002693.3(POLG):c.3497A>G (p.Tyr1166Cys) rs754900596 0.00002
NM_002693.3(POLG):c.862C>T (p.Arg288Cys) rs564582352 0.00002
NM_002693.3(POLG):c.1022C>T (p.Ala341Val) rs746639234 0.00001
NM_002693.3(POLG):c.1024-11T>A rs111879000 0.00001
NM_002693.3(POLG):c.1084C>G (p.Leu362Val) rs763248358 0.00001
NM_002693.3(POLG):c.1100C>T (p.Pro367Leu) rs751761350 0.00001
NM_002693.3(POLG):c.1190C>T (p.Ala397Val) rs1247562338 0.00001
NM_002693.3(POLG):c.1327C>T (p.Arg443Cys) rs747485523 0.00001
NM_002693.3(POLG):c.1328G>A (p.Arg443His) rs796052903 0.00001
NM_002693.3(POLG):c.1349G>T (p.Gly450Val) rs757804090 0.00001
NM_002693.3(POLG):c.1369C>T (p.Arg457Trp) rs766242100 0.00001
NM_002693.3(POLG):c.1385C>T (p.Ser462Leu) rs762878459 0.00001
NM_002693.3(POLG):c.1443A>C (p.Glu481Asp) rs1325331080 0.00001
NM_002693.3(POLG):c.1540C>G (p.Pro514Ala) rs756376617 0.00001
NM_002693.3(POLG):c.1543A>G (p.Ile515Val) rs748919988 0.00001
NM_002693.3(POLG):c.1606G>A (p.Glu536Lys) rs369549749 0.00001
NM_002693.3(POLG):c.1672C>G (p.Leu558Val) rs1411219168 0.00001
NM_002693.3(POLG):c.1736G>A (p.Arg579Gln) rs746406535 0.00001
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln) rs1001570418 0.00001
NM_002693.3(POLG):c.1795A>C (p.Thr599Pro) rs1064796458 0.00001
NM_002693.3(POLG):c.1840T>C (p.Tyr614His) rs566520464 0.00001
NM_002693.3(POLG):c.1870G>A (p.Val624Met) rs1362000189 0.00001
NM_002693.3(POLG):c.1883G>A (p.Arg628Gln) rs201871736 0.00001
NM_002693.3(POLG):c.1886A>C (p.Asp629Ala) rs1039182766 0.00001
NM_002693.3(POLG):c.1958A>T (p.Glu653Val) rs752073900 0.00001
NM_002693.3(POLG):c.1974G>C (p.Lys658Asn) rs1229982179 0.00001
NM_002693.3(POLG):c.2177A>G (p.Lys726Arg) rs774599342 0.00001
NM_002693.3(POLG):c.2197C>T (p.His733Tyr) rs780723692 0.00001
NM_002693.3(POLG):c.2201A>G (p.His734Arg) rs56119329 0.00001
NM_002693.3(POLG):c.2215T>C (p.Tyr739His) rs796052885 0.00001
NM_002693.3(POLG):c.2221G>A (p.Asp741Asn) rs751736420 0.00001
NM_002693.3(POLG):c.2257C>T (p.Pro753Ser) rs1446536384 0.00001
NM_002693.3(POLG):c.2392A>C (p.Ile798Leu) rs796052873 0.00001
NM_002693.3(POLG):c.2467C>T (p.Arg823Cys) rs757835879 0.00001
NM_002693.3(POLG):c.2471C>T (p.Ala824Val) rs1378795521 0.00001
NM_002693.3(POLG):c.2474T>C (p.Val825Ala) rs763453929 0.00001
NM_002693.3(POLG):c.2496T>G (p.Asp832Glu) rs762985241 0.00001
NM_002693.3(POLG):c.2509T>C (p.Tyr837His) rs544828395 0.00001
NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys) rs778190998 0.00001
NM_002693.3(POLG):c.2529A>G (p.Gln843=) rs369395629 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.2620T>A (p.Leu874Met) rs758402960 0.00001
NM_002693.3(POLG):c.2738G>A (p.Cys913Tyr) rs1393973718 0.00001
NM_002693.3(POLG):c.2815G>A (p.Val939Met) rs748045254 0.00001
NM_002693.3(POLG):c.3006G>C (p.Glu1002Asp) rs990343459 0.00001
NM_002693.3(POLG):c.3017G>A (p.Arg1006Lys) rs142732551 0.00001
NM_002693.3(POLG):c.3037G>T (p.Asp1013Tyr) rs1307399071 0.00001
NM_002693.3(POLG):c.3040A>G (p.Arg1014Gly) rs764195223 0.00001
NM_002693.3(POLG):c.3046G>A (p.Glu1016Lys) rs763290547 0.00001
NM_002693.3(POLG):c.3101G>A (p.Arg1034Lys) rs201014720 0.00001
NM_002693.3(POLG):c.3116A>G (p.Lys1039Arg) rs2055354815 0.00001
NM_002693.3(POLG):c.3120G>C (p.Lys1040Asn) rs754039113 0.00001
NM_002693.3(POLG):c.3122G>C (p.Trp1041Ser) rs796052894 0.00001
NM_002693.3(POLG):c.3140G>A (p.Arg1047Gln) rs768028281 0.00001
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe) rs765949668 0.00001
NM_002693.3(POLG):c.3346A>G (p.Met1116Val) rs201144044 0.00001
NM_002693.3(POLG):c.3408G>C (p.Glu1136Asp) rs755725702 0.00001
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys) rs149099318 0.00001
NM_002693.3(POLG):c.3443G>A (p.Arg1148His) rs145004638 0.00001
NM_002693.3(POLG):c.3483-12_3498dup rs2055313419 0.00001
NM_002693.3(POLG):c.3487A>G (p.Met1163Val) rs752500907 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.3542G>A (p.Ser1181Asn) rs149921636 0.00001
NM_002693.3(POLG):c.3551A>G (p.Asp1184Gly) rs376761578 0.00001
NM_002693.3(POLG):c.3554T>C (p.Ile1185Thr) rs374183622 0.00001
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn) rs765344513 0.00001
NM_002693.3(POLG):c.3638C>T (p.Pro1213Leu) rs1338265836 0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) rs781256643 0.00001
NM_002693.3(POLG):c.833T>C (p.Ile278Thr) rs779502496 0.00001
NM_002693.3(POLG):c.855G>C (p.Gln285His) rs141367015 0.00001
NM_002693.3(POLG):c.1103C>T (p.Pro368Leu) rs777985236
NM_002693.3(POLG):c.1118C>T (p.Pro373Leu) rs796052917
NM_002693.3(POLG):c.1121G>A (p.Arg374Gln) rs1202773554
NM_002693.3(POLG):c.1223AGC[2] (p.Gln410del) rs765446994
NM_002693.3(POLG):c.1274C>G (p.Ala425Gly) rs200399546
NM_002693.3(POLG):c.1291G>A (p.Gly431Ser)
NM_002693.3(POLG):c.1307C>A (p.Pro436His)
NM_002693.3(POLG):c.1315C>G (p.Gln439Glu) rs796052918
NM_002693.3(POLG):c.1381_1382delinsTC (p.Lys461Ser) rs796052920
NM_002693.3(POLG):c.1393G>C (p.Asp465His)
NM_002693.3(POLG):c.1426G>A (p.Gly476Arg) rs1555453652
NM_002693.3(POLG):c.1429G>A (p.Glu477Lys) rs1225242680
NM_002693.3(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.3(POLG):c.1510AAG[1] (p.Lys505del)
NM_002693.3(POLG):c.1532G>C (p.Ser511Thr) rs121918055
NM_002693.3(POLG):c.1570C>G (p.Pro524Ala) rs577476988
NM_002693.3(POLG):c.1591G>T (p.Gly531Cys) rs796052904
NM_002693.3(POLG):c.1603GAG[5] (p.Glu538_Phe539insGlu)
NM_002693.3(POLG):c.1612_1613delinsTT (p.Glu538Leu) rs796052921
NM_002693.3(POLG):c.1670A>C (p.Glu557Ala)
NM_002693.3(POLG):c.1696C>A (p.Leu566Ile) rs559937676
NM_002693.3(POLG):c.1729T>G (p.Cys577Gly)
NM_002693.3(POLG):c.1787T>C (p.Met596Thr) rs1085307495
NM_002693.3(POLG):c.1798C>A (p.Pro600Thr) rs759840237
NM_002693.3(POLG):c.1801A>C (p.Lys601Gln)
NM_002693.3(POLG):c.1810G>A (p.Ala604Thr) rs2055505286
NM_002693.3(POLG):c.1832C>T (p.Pro611Leu) rs1085307530
NM_002693.3(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002693.3(POLG):c.1912A>G (p.Thr638Ala) rs1567190199
NM_002693.3(POLG):c.1928C>A (p.Ala643Asp)
NM_002693.3(POLG):c.1969A>G (p.Arg657Gly)
NM_002693.3(POLG):c.1991G>A (p.Gly664Glu) rs773073959
NM_002693.3(POLG):c.1997A>T (p.Gln666Leu) rs62640029
NM_002693.3(POLG):c.2006T>C (p.Met669Thr)
NM_002693.3(POLG):c.2017G>A (p.Ala673Thr)
NM_002693.3(POLG):c.2042T>C (p.Leu681Pro) rs2509233776
NM_002693.3(POLG):c.2059A>G (p.Ile687Val) rs796052881
NM_002693.3(POLG):c.2093A>G (p.Glu698Gly) rs2509232368
NM_002693.3(POLG):c.2108C>T (p.Ala703Val)
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys) rs755502359
NM_002693.3(POLG):c.2134G>A (p.Val712Met) rs748834542
NM_002693.3(POLG):c.2137C>T (p.Pro713Ser) rs2055433353
NM_002693.3(POLG):c.2145A>G (p.Gln715=) rs796052882
NM_002693.3(POLG):c.2145A>T (p.Gln715His) rs796052882
NM_002693.3(POLG):c.2153C>T (p.Ala718Val) rs750036881
NM_002693.3(POLG):c.2165G>C (p.Arg722Pro) rs185645212
NM_002693.3(POLG):c.2165G>T (p.Arg722Leu) rs185645212
NM_002693.3(POLG):c.2168G>T (p.Gly723Val) rs2055428060
NM_002693.3(POLG):c.2187G>C (p.Gln729His) rs539787090
NM_002693.3(POLG):c.2252A>G (p.Lys751Arg) rs796052886
NM_002693.3(POLG):c.2258C>G (p.Pro753Arg) rs923667033
NM_002693.3(POLG):c.2273A>G (p.Asn758Ser) rs2152062441
NM_002693.3(POLG):c.2293_2295del (p.Pro765del)
NM_002693.3(POLG):c.2377G>A (p.Glu793Lys) rs2152062371
NM_002693.3(POLG):c.2391G>T (p.Met797Ile) rs2152062357
NM_002693.3(POLG):c.2396_2398del (p.Ser799del)
NM_002693.3(POLG):c.2429C>T (p.Ser810Phe) rs1023975185
NM_002693.3(POLG):c.2481-4C>G rs764833370
NM_002693.3(POLG):c.2506C>G (p.Leu836Val)
NM_002693.3(POLG):c.2530G>A (p.Val844Met) rs1555452881
NM_002693.3(POLG):c.2545A>G (p.Thr849Ala) rs1555452879
NM_002693.3(POLG):c.2662G>C (p.Gly888Arg) rs1567186787
NM_002693.3(POLG):c.2681A>C (p.Gln894Pro) rs2152061241
NM_002693.3(POLG):c.2701G>A (p.Val901Met) rs1555452825
NM_002693.3(POLG):c.2733T>G (p.His911Gln) rs1057524425
NM_002693.3(POLG):c.2823C>G (p.Ile941Met)
NM_002693.3(POLG):c.2915G>A (p.Arg972Gln) rs200309005
NM_002693.3(POLG):c.2951A>G (p.Gln984Arg) rs1780095681
NM_002693.3(POLG):c.2982-10C>G rs2152059869
NM_002693.3(POLG):c.3009G>C (p.Trp1003Cys) rs1064796455
NM_002693.3(POLG):c.3041G>A (p.Arg1014Lys) rs1368475929
NM_002693.3(POLG):c.3057G>T (p.Trp1019Cys)
NM_002693.3(POLG):c.3107C>T (p.Ser1036Leu) rs2055354896
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) rs121918049
NM_002693.3(POLG):c.3176A>T (p.Asn1059Ile) rs201192905
NM_002693.3(POLG):c.3194C>G (p.Ala1065Gly)
NM_002693.3(POLG):c.3244G>A (p.Ala1082Thr) rs1237603598
NM_002693.3(POLG):c.3259G>C (p.Ala1087Pro) rs752254929
NM_002693.3(POLG):c.3278T>C (p.Met1093Thr) rs2152058855
NM_002693.3(POLG):c.3313G>C (p.Ala1105Pro) rs753410045
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.3(POLG):c.3437G>T (p.Arg1146Leu) rs1202309863
NM_002693.3(POLG):c.3470A>C (p.Asn1157Thr) rs548076633
NM_002693.3(POLG):c.3472C>T (p.Leu1158Phe)
NM_002693.3(POLG):c.3544G>A (p.Ala1182Thr) rs1481381913
NM_002693.3(POLG):c.3547G>A (p.Val1183Ile) rs1555452261
NM_002693.3(POLG):c.3640dup (p.Gln1214fs)
NM_002693.3(POLG):c.729C>A (p.Asp243Glu) rs757917194
NM_002693.3(POLG):c.818T>G (p.Phe273Cys)
NM_002693.3(POLG):c.852C>G (p.Ile284Met) rs41540414
NM_002693.3(POLG):c.883A>G (p.Met295Val) rs1460331646

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