ClinVar Miner

List of variants in gene POLG reported as pathogenic for mitochondrial DNA depletion syndrome

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
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.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
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.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg) rs368587966 0.00007
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.3104+3A>T rs778573169 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_002693.3(POLG):c.2420G>A (p.Arg807His) rs796052887 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.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002693.3(POLG):c.907G>A (p.Gly303Arg) rs749799663 0.00003
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) rs556925652 0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) rs763393580 0.00002
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 0.00002
NM_002693.3(POLG):c.1120C>T (p.Arg374Ter) rs960142425 0.00001
NM_002693.3(POLG):c.1433+2T>C rs920850257 0.00001
NM_002693.3(POLG):c.1720C>T (p.Arg574Trp) rs774474723 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln) rs1001570418 0.00001
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) rs121918046 0.00001
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg) rs796052906 0.00001
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter) rs1254855971 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 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.2591A>G (p.Asn864Ser) rs121918050 0.00001
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro) rs121918051 0.00001
NM_002693.3(POLG):c.2870C>T (p.Ala957Val) rs753160398 0.00001
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg) rs142347031 0.00001
NM_002693.3(POLG):c.3241C>T (p.Arg1081Ter) rs767708989 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg) rs761649878 0.00001
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys) rs56047213 0.00001
NM_002693.3(POLG):c.3483-4_3497del rs756325504 0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn) rs1131691575 0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) rs781256643 0.00001
NM_002693.3(POLG):c.823C>T (p.Arg275Ter) rs1057517803 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
NC_000015.10:g.89319351del
NC_000015.10:g.89327064del
NC_000015.9:g.(?_89860587)_(89860787_?)del
NC_000015.9:g.(?_89860587)_(89876985_?)del
NC_000015.9:g.(?_89862142)_(89867152_?)del
NC_000015.9:g.(?_89862161)_(89864158_?)del
NC_000015.9:g.(?_89862162)_(89864159_?)del
NC_000015.9:g.(?_89873292)_(89873527_?)del
NM_002693.3(POLG):c.1035G>A (p.Trp345Ter) rs2152067996
NM_002693.3(POLG):c.1128_1129del (p.Phe377fs)
NM_002693.3(POLG):c.1185C>G (p.Tyr395Ter)
NM_002693.3(POLG):c.1237_1250dup (p.Arg417fs) rs2152067781
NM_002693.3(POLG):c.1251-2A>G rs2055536585
NM_002693.3(POLG):c.1251-2A>T
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.1293del (p.Val432fs)
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter) rs1567191417
NM_002693.3(POLG):c.1356T>A (p.Tyr452Ter)
NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter)
NM_002693.3(POLG):c.1390dup (p.Met464fs)
NM_002693.3(POLG):c.1432_1433del (p.Arg478fs)
NM_002693.3(POLG):c.1433+1G>C
NM_002693.3(POLG):c.1451G>A (p.Trp484Ter)
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter) rs2055531147
NM_002693.3(POLG):c.1562del (p.Pro521fs) rs1567191094
NM_002693.3(POLG):c.1575_1578del (p.Met525fs) rs1253517114
NM_002693.3(POLG):c.1590del (p.Gly531fs)
NM_002693.3(POLG):c.1700del (p.Pro567fs)
NM_002693.3(POLG):c.1704_1712+1del
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.1783C>T (p.Gln595Ter) rs2152065937
NM_002693.3(POLG):c.1783_1786dup (p.Met596fs) rs2152065935
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.3(POLG):c.1789_1791del (p.Arg597del)
NM_002693.3(POLG):c.1796C>T (p.Thr599Ile)
NM_002693.3(POLG):c.1818del (p.Trp607fs) rs2055505065
NM_002693.3(POLG):c.1846del (p.Glu616fs) rs2152065886
NM_002693.3(POLG):c.1860G>A (p.Trp620Ter)
NM_002693.3(POLG):c.1874C>T (p.Pro625Leu) rs1064794214
NM_002693.3(POLG):c.1887del (p.Asp629fs) rs2055503614
NM_002693.3(POLG):c.1912dup (p.Thr638fs)
NM_002693.3(POLG):c.1947C>A (p.Tyr649Ter) rs1465650547
NM_002693.3(POLG):c.1988_1989del (p.Gln663fs) rs1483201828
NM_002693.3(POLG):c.1994_1998del (p.Lys665fs)
NM_002693.3(POLG):c.1996C>T (p.Gln666Ter)
NM_002693.3(POLG):c.2004del (p.Met669fs) rs2152063421
NM_002693.3(POLG):c.2038del (p.Leu680fs) rs1567188632
NM_002693.3(POLG):c.2070+1G>A rs1567188588
NM_002693.3(POLG):c.2085_2098del (p.Asp695fs)
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter) rs867038717
NM_002693.3(POLG):c.2134del (p.Val712fs)
NM_002693.3(POLG):c.2157+5_2157+6delinsAG rs1596354607
NM_002693.3(POLG):c.2217C>A (p.Tyr739Ter) rs750514687
NM_002693.3(POLG):c.2217_2230dup (p.Ile744fs) rs1282521429
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.3(POLG):c.2311del (p.Leu771fs)
NM_002693.3(POLG):c.2395del (p.Ser799fs) rs796052919
NM_002693.3(POLG):c.2420G>C (p.Arg807Pro)
NM_002693.3(POLG):c.2426+1G>C rs1567187745
NM_002693.3(POLG):c.2456C>A (p.Ser819Ter)
NM_002693.3(POLG):c.2480+1G>A rs1567187326
NM_002693.3(POLG):c.2480+1G>T
NM_002693.3(POLG):c.2496_2529del (p.Asp832fs)
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.2564T>C (p.Val855Ala) rs963553787
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) rs778429780
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.2617G>T (p.Glu873Ter) rs121918047
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.2680C>T (p.Gln894Ter)
NM_002693.3(POLG):c.2690G>A (p.Trp897Ter)
NM_002693.3(POLG):c.2691_2703dup (p.Leu902fs) rs2152061226
NM_002693.3(POLG):c.2753G>A (p.Trp918Ter) rs2152061062
NM_002693.3(POLG):c.2764C>T (p.Gln922Ter)
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.2851T>A (p.Tyr951Asn) rs1567186591
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.2894_2897del (p.Arg964_Leu965insTer) rs2152060929
NM_002693.3(POLG):c.2901_2907del (p.Met967fs)
NM_002693.3(POLG):c.3003_3013del (p.Trp1003fs) rs2055359441
NM_002693.3(POLG):c.3014_3057del (p.Val1005fs) rs886041276
NM_002693.3(POLG):c.3057G>A (p.Trp1019Ter) rs1567185775
NM_002693.3(POLG):c.3067C>T (p.Gln1023Ter) rs1567185770
NM_002693.3(POLG):c.3091_3092del (p.Glu1031fs) rs1555452607
NM_002693.3(POLG):c.3149del (p.Lys1050fs) rs1567185603
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3155dup (p.Thr1053fs) rs1447799185
NM_002693.3(POLG):c.3158_3159del (p.Thr1053fs) rs1332921412
NM_002693.3(POLG):c.3187_3188del (p.Ser1063fs)
NM_002693.3(POLG):c.3249_3256del (p.Glu1084fs)
NM_002693.3(POLG):c.3255dup (p.Ser1086fs) rs1596350386
NM_002693.3(POLG):c.3268G>T (p.Glu1090Ter)
NM_002693.3(POLG):c.3304C>T (p.Gln1102Ter)
NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)
NM_002693.3(POLG):c.3316G>A (p.Val1106Ile)
NM_002693.3(POLG):c.3325_3328del (p.Leu1109fs) rs1442498340
NM_002693.3(POLG):c.3326dup (p.Leu1109fs) rs2152058768
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer) rs1064793800
NM_002693.3(POLG):c.3409dup (p.Val1137fs) rs1555452461
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.3(POLG):c.3424dup (p.Arg1142fs) rs1555452453
NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs) rs1567185048
NM_002693.3(POLG):c.3447dup (p.Ala1150fs) rs1567185026
NM_002693.3(POLG):c.3482+1G>T
NM_002693.3(POLG):c.3482+2T>C rs1466226819
NM_002693.3(POLG):c.3483-2A>G rs1057518035
NM_002693.3(POLG):c.3489_3553dup (p.Ile1185delinsSerLeuProThrSerTrpValTer)
NM_002693.3(POLG):c.3490_3493dup (p.Ala1165fs) rs778115255
NM_002693.3(POLG):c.3491_3492dup (p.Ala1165fs)
NM_002693.3(POLG):c.3501del (p.Lys1167fs)
NM_002693.3(POLG):c.3523C>T (p.Gln1175Ter) rs1567184117
NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs)
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)
NM_002693.3(POLG):c.3570del (p.Lys1191fs)
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.3574G>T (p.Glu1192Ter) rs2055309922
NM_002693.3(POLG):c.3576_3580dup (p.Thr1194delinsLysTer) rs2152056369
NM_002693.3(POLG):c.3601del (p.Ser1201fs) rs781311846
NM_002693.3(POLG):c.3608_3612del (p.Pro1203fs)
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs) rs886043241
NM_002693.3(POLG):c.3626_3629dup (p.Tyr1210Ter)
NM_002693.3(POLG):c.3630C>G (p.Tyr1210Ter) rs139562274
NM_002693.3(POLG):c.3643+1G>A
NM_002693.3(POLG):c.3643+2T>C rs1335880349
NM_002693.3(POLG):c.739dup (p.Leu247fs)
NM_002693.3(POLG):c.782G>A (p.Trp261Ter)
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.844T>G (p.Tyr282Asp) rs1290567099
NM_002693.3(POLG):c.846C>G (p.Tyr282Ter) rs2152068651
NM_002693.3(POLG):c.922C>T (p.Gln308Ter) rs1555453824
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002693.3(POLG):c.934T>C (p.Trp312Arg)
NM_002693.3(POLG):c.935G>A (p.Trp312Ter)
NM_002693.3(POLG):c.951_961dup (p.Lys321fs) rs1596359629
NM_002693.3(POLG):c.967C>T (p.Gln323Ter)
NM_002693.3(POLG):c.991_992insG (p.Lys331fs)

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