ClinVar Miner

List of variants studied for Progressive sclerosing poliodystrophy by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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Minimum conflict level:
ClinVar version:
Total variants: 407
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2071-22T>C rs2072267 0.56891
NM_002693.3(POLG):c.3643+180G>A rs3176238 0.48246
NM_002693.3(POLG):c.3483-19T>G rs2307438 0.44213
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_002693.3(POLG):c.3105-36A>G rs2246900 0.31986
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_002693.3(POLG):c.1713-32C>T rs3176190 0.06017
NM_002693.3(POLG):c.2266-76T>C rs3176203 0.05603
NM_002693.3(POLG):c.660-46G>A rs2307430 0.04873
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.1251-43C>T rs2307444 0.02369
NM_002693.3(POLG):c.1950-21C>T rs2307452 0.01987
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_002693.3(POLG):c.3482+44G>A rs3176228 0.01216
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_002693.3(POLG):c.3643+48A>G rs2307454 0.01182
NM_002693.3(POLG):c.1586-5del rs2307434 0.00891
NM_002693.3(POLG):c.2109C>A (p.Ala703=) rs2307429 0.00845
NM_002693.3(POLG):c.1713-31G>A rs3176191 0.00805
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_002693.3(POLG):c.3644-9A>G rs115048121 0.00785
NM_002693.3(POLG):c.3643+25A>G rs74842339 0.00779
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.1024-38C>T rs138069091 0.00549
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.3644-14G>C rs3087375 0.00449
NM_002693.3(POLG):c.2735-15C>T rs41544115 0.00390
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 0.00345
NM_002693.3(POLG):c.134A>G (p.Gln45Arg) rs201016638 0.00316
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 0.00194
NM_002693.3(POLG):c.1950-43A>G rs74596434 0.00178
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_002693.3(POLG):c.1434-45C>T rs190262367 0.00163
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_002693.3(POLG):c.2426+27G>A rs72762657 0.00157
NM_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00146
NM_002693.3(POLG):c.1585+11T>C rs201566815 0.00129
NM_002693.3(POLG):c.2735-7C>G rs200372494 0.00128
NM_002693.3(POLG):c.1434-27C>T rs139086616 0.00125
NM_002693.3(POLG):c.1949+20G>C rs371964664 0.00117
NM_002693.3(POLG):c.3104+24G>C rs201483942 0.00100
NM_002693.3(POLG):c.2982-30G>A rs76339822 0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_002693.3(POLG):c.1251-23del rs541579481 0.00077
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
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.3104+32G>A rs200269242 0.00058
NM_002693.3(POLG):c.1275C>T (p.Ala425=) rs147404477 0.00056
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_002693.3(POLG):c.798G>T (p.Val266=) rs143631183 0.00056
NM_002693.3(POLG):c.2481-26C>T rs112776049 0.00055
NM_002693.3(POLG):c.3105-22C>T rs199809987 0.00049
NM_002693.3(POLG):c.660-29T>C rs374159057 0.00049
NM_002693.3(POLG):c.3274-19G>A rs116925016 0.00043
NM_002693.3(POLG):c.1712+10G>A rs55962804 0.00040
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
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 0.00032
NM_002693.3(POLG):c.3652C>T (p.Leu1218=) rs146301349 0.00032
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_002693.3(POLG):c.2149C>T (p.Leu717=) rs779515404 0.00024
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
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.408C>G (p.Asp136Glu) rs115109291 0.00023
NM_002693.3(POLG):c.2369G>A (p.Arg790His) rs191490663 0.00021
NM_002693.3(POLG):c.2599-40G>T rs55792683 0.00021
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.186A>G (p.Leu62=) rs745310138 0.00016
NM_002693.3(POLG):c.3104+27G>A rs373628823 0.00016
NM_002693.3(POLG):c.3104+50C>T rs370764907 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 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.1171-24C>T rs369293614 0.00013
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_002693.3(POLG):c.3644-16T>C rs536522307 0.00012
NM_002693.3(POLG):c.1024-44C>T rs370557654 0.00011
NM_002693.3(POLG):c.1066C>T (p.Leu356=) rs371431444 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.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_002693.3(POLG):c.1001G>A (p.Arg334Lys) rs776437525 0.00009
NM_002693.3(POLG):c.1250+37G>T rs372614123 0.00009
NM_002693.3(POLG):c.2220C>T (p.Asn740=) rs141538857 0.00009
NM_002693.3(POLG):c.2599-24T>C rs368659678 0.00009
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_002693.3(POLG):c.2157+15G>A rs766521182 0.00008
NM_002693.3(POLG):c.2481-44A>T rs370712401 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.1904C>T (p.Pro635Leu) rs773994204 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.154C>A (p.Gln52Lys) rs376683989 0.00006
NM_002693.3(POLG):c.1586-21T>G rs908825194 0.00006
NM_002693.3(POLG):c.1743C>T (p.Asp581=) rs140743000 0.00006
NM_002693.3(POLG):c.1761G>A (p.Pro587=) rs374805003 0.00006
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.2982-50G>A rs752500882 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.3450C>T (p.Ala1150=) rs774880085 0.00006
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_002693.3(POLG):c.1311C>T (p.Val437=) rs62640035 0.00005
NM_002693.3(POLG):c.1434-32C>G rs954111058 0.00005
NM_002693.3(POLG):c.150G>A (p.Gln50=) rs766501874 0.00005
NM_002693.3(POLG):c.1684C>T (p.Arg562Trp) rs756952607 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_002693.3(POLG):c.2508C>T (p.Leu836=) rs183811122 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_002693.3(POLG):c.753T>A (p.Thr251=) rs148099686 0.00005
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.1638C>T (p.Arg546=) rs772461291 0.00004
NM_002693.3(POLG):c.1713-5C>T rs148494026 0.00004
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu) rs776848222 0.00004
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr) rs770438363 0.00004
NM_002693.3(POLG):c.2266-48del rs766283304 0.00004
NM_002693.3(POLG):c.2880C>T (p.Pro960=) rs752500492 0.00004
NM_002693.3(POLG):c.3104+3A>T rs778573169 0.00004
NM_002693.3(POLG):c.3222G>T (p.Val1074=) rs746773616 0.00004
NM_002693.3(POLG):c.3273+28A>C rs371425871 0.00004
NM_002693.3(POLG):c.3451C>T (p.Leu1151=) rs769193603 0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
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.1949+44C>A rs762378430 0.00003
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.2111A>C (p.Lys704Thr) rs1049107490 0.00003
NM_002693.3(POLG):c.2420G>A (p.Arg807His) rs796052887 0.00003
NM_002693.3(POLG):c.2598+28T>A rs1020120703 0.00003
NM_002693.3(POLG):c.2814T>C (p.Thr938=) rs771822843 0.00003
NM_002693.3(POLG):c.2987G>A (p.Arg996Gln) rs770236576 0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) rs121918049 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 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.60A>C (p.Pro20=) rs944054671 0.00003
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1585+18G>A rs1371422250 0.00002
NM_002693.3(POLG):c.1713-4G>A rs201857960 0.00002
NM_002693.3(POLG):c.17G>C (p.Trp6Ser) rs1057524249 0.00002
NM_002693.3(POLG):c.1849C>T (p.Arg617Cys) rs144374017 0.00002
NM_002693.3(POLG):c.2019C>T (p.Ala673=) rs557179508 0.00002
NM_002693.3(POLG):c.2020G>A (p.Gly674Ser) rs538978071 0.00002
NM_002693.3(POLG):c.2126G>A (p.Arg709Gln) rs1015705626 0.00002
NM_002693.3(POLG):c.2266-44G>T rs1335068171 0.00002
NM_002693.3(POLG):c.2446C>G (p.Leu816Val) rs748262645 0.00002
NM_002693.3(POLG):c.2830G>A (p.Glu944Lys) rs768653086 0.00002
NM_002693.3(POLG):c.2982-31C>T rs2307432 0.00002
NM_002693.3(POLG):c.2998G>A (p.Glu1000Lys) rs1412887168 0.00002
NM_002693.3(POLG):c.3077G>A (p.Arg1026His) rs777038915 0.00002
NM_002693.3(POLG):c.3104+8C>A rs754615624 0.00002
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 0.00002
NM_002693.3(POLG):c.3266A>G (p.Gln1089Arg) rs369716454 0.00002
NM_002693.3(POLG):c.3273+8G>A rs776468044 0.00002
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser) rs548076633 0.00002
NM_002693.3(POLG):c.3516C>G (p.Asp1172Glu) rs766196697 0.00002
NM_002693.3(POLG):c.3671T>C (p.Ile1224Thr) rs779072487 0.00002
NM_002693.3(POLG):c.516G>A (p.Ala172=) rs1028326668 0.00002
NM_002693.3(POLG):c.*30G>A rs3087376 0.00001
NM_002693.3(POLG):c.1084C>G (p.Leu362Val) rs763248358 0.00001
NM_002693.3(POLG):c.1120C>T (p.Arg374Ter) rs960142425 0.00001
NM_002693.3(POLG):c.1149G>A (p.Lys383=) rs767256165 0.00001
NM_002693.3(POLG):c.1170+9C>T rs373168754 0.00001
NM_002693.3(POLG):c.1251G>A (p.Arg417=) rs1567191509 0.00001
NM_002693.3(POLG):c.1327C>T (p.Arg443Cys) rs747485523 0.00001
NM_002693.3(POLG):c.1369C>T (p.Arg457Trp) rs766242100 0.00001
NM_002693.3(POLG):c.1370G>A (p.Arg457Gln) rs372911506 0.00001
NM_002693.3(POLG):c.1648C>G (p.Gln550Glu) rs1227630175 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 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.1887C>T (p.Asp629=) rs886051524 0.00001
NM_002693.3(POLG):c.1894G>A (p.Ala632Thr) rs908875872 0.00001
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr) rs568913937 0.00001
NM_002693.3(POLG):c.191C>G (p.Ser64Trp) rs1397887879 0.00001
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg) rs796052906 0.00001
NM_002693.3(POLG):c.1949+14C>T rs754016118 0.00001
NM_002693.3(POLG):c.2038C>T (p.Leu680=) rs373066911 0.00001
NM_002693.3(POLG):c.2045C>G (p.Thr682Ser) rs1328436909 0.00001
NM_002693.3(POLG):c.2070+27T>C rs1259690556 0.00001
NM_002693.3(POLG):c.2071-48G>T rs1293230481 0.00001
NM_002693.3(POLG):c.2118G>A (p.Glu706=) rs748699275 0.00001
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter) rs1254855971 0.00001
NM_002693.3(POLG):c.2157+10G>T rs751357356 0.00001
NM_002693.3(POLG):c.2177A>G (p.Lys726Arg) rs774599342 0.00001
NM_002693.3(POLG):c.2224G>A (p.Val742Met) rs147827654 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.2426+17G>A rs572105844 0.00001
NM_002693.3(POLG):c.2427-16T>C rs769407407 0.00001
NM_002693.3(POLG):c.2427-20C>T rs1567187412 0.00001
NM_002693.3(POLG):c.2483A>G (p.His828Arg) rs533807211 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.2573C>T (p.Thr858Ile) rs759128787 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.2688G>A (p.Leu896=) rs769306875 0.00001
NM_002693.3(POLG):c.2698G>A (p.Ala900Thr) rs935602068 0.00001
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg) rs765916932 0.00001
NM_002693.3(POLG):c.2870C>T (p.Ala957Val) rs753160398 0.00001
NM_002693.3(POLG):c.2984A>G (p.Tyr995Cys) rs749458217 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.3170T>C (p.Met1057Thr) rs966144250 0.00001
NM_002693.3(POLG):c.31G>A (p.Gly11Ser) rs764055826 0.00001
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186 0.00001
NM_002693.3(POLG):c.3228C>G (p.Gly1076=) rs777893046 0.00001
NM_002693.3(POLG):c.3241C>T (p.Arg1081Ter) rs767708989 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.3285C>G (p.Ser1095Arg) rs761649878 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.3542G>A (p.Ser1181Asn) rs149921636 0.00001
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn) rs765344513 0.00001
NM_002693.3(POLG):c.3610A>T (p.Thr1204Ser) rs761103159 0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) rs781256643 0.00001
NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn) rs775517153 0.00001
NM_002693.3(POLG):c.384G>T (p.Pro128=) rs558958919 0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) rs1056580076 0.00001
NM_002693.3(POLG):c.528C>T (p.Thr176=) rs750915606 0.00001
NM_002693.3(POLG):c.635C>T (p.Ala212Val) rs751130039 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002693.3(POLG):c.855+19A>G rs888039212 0.00001
NM_002693.3(POLG):c.855G>C (p.Gln285His) rs141367015 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002693.3(POLG):c.955A>G (p.Lys319Glu) rs766465907 0.00001
NM_002693.2(POLG):c.125_139dup rs780010436
NM_002693.3(POLG):c.*49G>A rs758880377
NM_002693.3(POLG):c.1023+10C>T rs777477062
NM_002693.3(POLG):c.1023+17G>C rs778750911
NM_002693.3(POLG):c.1024-24A>G rs1567192219
NM_002693.3(POLG):c.1056T>C (p.Ser352=) rs1567192184
NM_002693.3(POLG):c.1171-18C>G rs1567192015
NM_002693.3(POLG):c.1171-30A>G rs761504232
NM_002693.3(POLG):c.1171-37G>T rs1426619872
NM_002693.3(POLG):c.1186T>C (p.Cys396Arg) rs1567191994
NM_002693.3(POLG):c.1223AGC[2] (p.Gln410del) rs765446994
NM_002693.3(POLG):c.1250+12C>T rs985160740
NM_002693.3(POLG):c.1250+27_1250+28del rs776623760
NM_002693.3(POLG):c.1251-38G>C rs1567191551
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del) rs41550117
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs) rs796052908
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.1289T>C (p.Met430Thr) rs1567191474
NM_002693.3(POLG):c.133_134insGGC (p.Gln44_Gln45insArg) rs1567194472
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter) rs1567191417
NM_002693.3(POLG):c.1371G>C (p.Arg457=) rs1567191387
NM_002693.3(POLG):c.137A>G (p.Gln46Arg) rs1555454339
NM_002693.3(POLG):c.1418T>C (p.Leu473Pro) rs1567191334
NM_002693.3(POLG):c.1452G>C (p.Trp484Cys) rs774879097
NM_002693.3(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.3(POLG):c.153G>A (p.Gln51=) rs1453538834
NM_002693.3(POLG):c.1562del (p.Pro521fs) rs1567191094
NM_002693.3(POLG):c.1585+22TAGGG[4] rs777442304
NM_002693.3(POLG):c.1586-33_1586-31del rs1567190938
NM_002693.3(POLG):c.158A>C (p.Gln53Pro) rs527965158
NM_002693.3(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.3(POLG):c.159A>T (p.Gln53His) rs587781118
NM_002693.3(POLG):c.1639G>T (p.Ala547Ser) rs779353857
NM_002693.3(POLG):c.1640C>A (p.Ala547Asp) rs1567190832
NM_002693.3(POLG):c.1674C>G (p.Leu558=) rs552085869
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.3(POLG):c.1789C>G (p.Arg597Gly) rs139717885
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.3(POLG):c.1797A>T (p.Thr599=) rs775651351
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>T (p.Pro635=) rs550592814
NM_002693.3(POLG):c.1950-16A>C rs1310096810
NM_002693.3(POLG):c.1950-32_1950-30del rs1567188748
NM_002693.3(POLG):c.202C>T (p.Gln68Ter) rs202039305
NM_002693.3(POLG):c.2038del (p.Leu680fs) rs1567188632
NM_002693.3(POLG):c.2070+1G>A rs1567188588
NM_002693.3(POLG):c.2071-43C>T rs753372873
NM_002693.3(POLG):c.2071-4C>T rs1567188491
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del) rs760784347
NM_002693.3(POLG):c.210G>T (p.Arg70=) rs751225754
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys) rs755502359
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter) rs867038717
NM_002693.3(POLG):c.2157+5_2157+6delinsAG rs1596354607
NM_002693.3(POLG):c.2158-17G>T rs1567188293
NM_002693.3(POLG):c.2165G>T (p.Arg722Leu) rs185645212
NM_002693.3(POLG):c.2262C>G (p.His754Gln) rs1567188178
NM_002693.3(POLG):c.2265+15A>G rs747993559
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.3(POLG):c.2391_2393del (p.Met797del) rs1567187766
NM_002693.3(POLG):c.2395del (p.Ser799fs) rs796052919
NM_002693.3(POLG):c.2409C>T (p.Asn803=) rs1236942179
NM_002693.3(POLG):c.2426+10C>G rs1567187739
NM_002693.3(POLG):c.2426+1G>C rs1567187745
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del) rs1596353095
NM_002693.3(POLG):c.2480+1G>A rs1567187326
NM_002693.3(POLG):c.2481-10A>C rs555280530
NM_002693.3(POLG):c.248T>C (p.Leu83Pro) rs1567194243
NM_002693.3(POLG):c.2526C>T (p.Pro842=) rs758903771
NM_002693.3(POLG):c.2543_2544dup (p.Thr849fs) rs1567187103
NM_002693.3(POLG):c.2551A>G (p.Thr851Ala) rs775445970
NM_002693.3(POLG):c.2555G>A (p.Arg852His) rs1567187093
NM_002693.3(POLG):c.2564T>C (p.Val855Ala) rs963553787
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) rs778429780
NM_002693.3(POLG):c.2589C>G (p.Ser863Arg) rs1567187057
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.3(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.2654C>T (p.Thr885Ile) rs1224799376
NM_002693.3(POLG):c.2662G>A (p.Gly888Ser) rs1567186787
NM_002693.3(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.3(POLG):c.2674dup (p.Asp892fs) rs1283198587
NM_002693.3(POLG):c.2734+39_2734+40insAGGT rs2307433
NM_002693.3(POLG):c.2735-42A>G rs1258121070
NM_002693.3(POLG):c.2791C>A (p.Leu931Ile) rs1567186644
NM_002693.3(POLG):c.2794C>T (p.His932Tyr) rs121918048
NM_002693.3(POLG):c.2827C>T (p.Arg943Cys) rs1567186614
NM_002693.3(POLG):c.2828G>A (p.Arg943His) rs1567186613
NM_002693.3(POLG):c.2845_2847del (p.Phe949del) rs1567186596
NM_002693.3(POLG):c.2851T>A (p.Tyr951Asn) rs1567186591
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser) rs531744363
NM_002693.3(POLG):c.2858G>A (p.Arg953His) rs1567186581
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.2874G>T (p.Gly958=) rs1567186563
NM_002693.3(POLG):c.2896C>T (p.Leu966=) rs1187151579
NM_002693.3(POLG):c.2915G>A (p.Arg972Gln) rs200309005
NM_002693.3(POLG):c.2982-16A>G rs1567185886
NM_002693.3(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.3(POLG):c.3025A>T (p.Asn1009Tyr) rs1567185808
NM_002693.3(POLG):c.3067C>T (p.Gln1023Ter) rs1567185770
NM_002693.3(POLG):c.3104+64A>G rs1567185722
NM_002693.3(POLG):c.3105-19T>C rs755986798
NM_002693.3(POLG):c.3126G>A (p.Glu1042=) rs766485086
NM_002693.3(POLG):c.3149del (p.Lys1050fs) rs1567185603
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly) rs1567185468
NM_002693.3(POLG):c.3235A>C (p.Ile1079Leu) rs756393846
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup) rs1064794213
NM_002693.3(POLG):c.3242G>C (p.Arg1081Pro) rs140079523
NM_002693.3(POLG):c.3273+34G>A rs1567185382
NM_002693.3(POLG):c.3274-47G>A rs1567185324
NM_002693.3(POLG):c.3293A>T (p.Asn1098Ile) rs587780421
NM_002693.3(POLG):c.3298G>A (p.Val1100Met) rs1567185242
NM_002693.3(POLG):c.3306G>C (p.Gln1102His) rs1336274767
NM_002693.3(POLG):c.3338T>C (p.Leu1113Pro) rs1567185178
NM_002693.3(POLG):c.3390C>T (p.Cys1130=) rs1567185105
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs) rs1567185048
NM_002693.3(POLG):c.3447dup (p.Ala1150fs) rs1567185026
NM_002693.3(POLG):c.3456C>G (p.Ala1152=) rs1567185018
NM_002693.3(POLG):c.347C>G (p.Pro116Arg) rs747828222
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.3483-14T>A rs587781119
NM_002693.3(POLG):c.3483-2A>G rs1057518035
NM_002693.3(POLG):c.3483-41A>C rs2307436
NM_002693.3(POLG):c.3490_3493dup (p.Ala1165fs) rs778115255
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002693.3(POLG):c.3562T>C (p.Cys1188Arg) rs754844175
NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg) rs1567183988
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.3(POLG):c.3584T>G (p.Met1195Arg) rs758720361
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala) rs772737979
NM_002693.3(POLG):c.3640C>G (p.Gln1214Glu) rs781256643
NM_002693.3(POLG):c.3673dup (p.Glu1225fs) rs1567183122
NM_002693.3(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.3(POLG):c.470T>C (p.Leu157Pro) rs1567194013
NM_002693.3(POLG):c.538C>T (p.Pro180Ser) rs1567193954
NM_002693.3(POLG):c.611C>G (p.Ala204Gly) rs1015074661
NM_002693.3(POLG):c.659+11G>T rs3087379
NM_002693.3(POLG):c.698dup (p.Tyr233Ter) rs1567192884
NM_002693.3(POLG):c.705G>A (p.Trp235Ter) rs1567192879
NM_002693.3(POLG):c.70C>T (p.Arg24Cys) rs1196273210
NM_002693.3(POLG):c.729C>A (p.Asp243Glu) rs757917194
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.82A>T (p.Ser28Cys) rs1567194544
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.855+16C>A rs1567192747
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.3(POLG):c.975C>G (p.Pro325=) rs551973680

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