ClinVar Miner

List of variants in gene POLG reported as pathogenic

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Total variants: 138
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HGVS dbSNP
NM_001126131.2(POLG):c.1268_1269CT[1] (p.Leu424fs) rs796052908
NM_001126131.2(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_001126131.2(POLG):c.2395del (p.Ser799fs) rs796052919
NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_001126131.2(POLG):c.2674dup (p.Asp892fs) rs1283198587
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001126131.2(POLG):c.3087_3088GA[2] (p.Glu1031fs) rs1555452607
NM_001126131.2(POLG):c.3218C>T (p.Pro1073Leu) rs267606959
NM_001126131.2(POLG):c.3255dup (p.Ser1086fs) rs1596350386
NM_001126131.2(POLG):c.3430_3433dup (p.Asp1145fs) rs1567185048
NM_001126131.2(POLG):c.3490_3493dup (p.Ala1165fs) rs778115255
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.1024-1G>C rs1567192203
NM_002693.2(POLG):c.1073del (p.Glu358fs) rs763418954
NM_002693.2(POLG):c.1120C>T (p.Arg374Ter) rs960142425
NM_002693.2(POLG):c.1140dup (p.Thr381fs) rs1596359384
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.1289T>C (p.Met430Thr) rs1567191474
NM_002693.2(POLG):c.1345C>T (p.Gln449Ter) rs1567191417
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.1433+1G>A rs771623994
NM_002693.2(POLG):c.1532G>A (p.Ser511Asn) rs121918055
NM_002693.2(POLG):c.1562del (p.Pro521fs) rs1567191094
NM_002693.2(POLG):c.160C>T (p.Gln54Ter) rs774768199
NM_002693.2(POLG):c.1716G>A (p.Trp572Ter) rs767709505
NM_002693.2(POLG):c.1721G>A (p.Arg574Gln) rs764287987
NM_002693.2(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.2(POLG):c.1790G>A (p.Arg597Gln) rs1001570418
NM_002693.2(POLG):c.1808T>C (p.Met603Thr) rs367610201
NM_002693.2(POLG):c.1874C>T (p.Pro625Leu) rs1064794214
NM_002693.2(POLG):c.1879C>T (p.Arg627Trp) rs121918046
NM_002693.2(POLG):c.1880G>A (p.Arg627Gln) rs375305567
NM_002693.2(POLG):c.1943C>G (p.Pro648Arg) rs796052906
NM_002693.2(POLG):c.202C>T (p.Gln68Ter) rs202039305
NM_002693.2(POLG):c.2038del (p.Leu680fs) rs1567188632
NM_002693.2(POLG):c.2070+1G>A rs1567188588
NM_002693.2(POLG):c.2125C>T (p.Arg709Ter) rs867038717
NM_002693.2(POLG):c.2143C>T (p.Gln715Ter) rs1254855971
NM_002693.2(POLG):c.2157+5_2157+6delinsAG rs1596354607
NM_002693.2(POLG):c.2217_2230dup (p.Ile744fs) rs1282521429
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) rs769827124
NM_002693.2(POLG):c.2420G>A (p.Arg807His) rs796052887
NM_002693.2(POLG):c.2426+1G>C rs1567187745
NM_002693.2(POLG):c.2480+1G>A rs1567187326
NM_002693.2(POLG):c.2515del (p.Ala839fs) rs1596352895
NM_002693.2(POLG):c.2543_2544dup (p.Thr849fs) rs1567187103
NM_002693.2(POLG):c.2551A>G (p.Thr851Ala) rs775445970
NM_002693.2(POLG):c.2554C>T rs144500145
NM_002693.2(POLG):c.2557C>T (p.Arg853Trp) rs121918053
NM_002693.2(POLG):c.2558G>A (p.Arg853Gln) rs796052888
NM_002693.2(POLG):c.2563G>T (p.Val855Leu) rs771254207
NM_002693.2(POLG):c.2564T>C (p.Val855Ala) rs963553787
NM_002693.2(POLG):c.2591A>G (p.Asn864Ser) rs121918050
NM_002693.2(POLG):c.2605C>T (p.Arg869Ter) rs751376824
NM_002693.2(POLG):c.2617G>T (p.Glu873Ter) rs121918047
NM_002693.2(POLG):c.2636A>G (p.Gln879Arg) rs368587966
NM_002693.2(POLG):c.2662G>A (p.Gly888Ser) rs1567186787
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.2669A>C (p.Asp890Ala) rs1567186779
NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) rs139590686
NM_002693.2(POLG):c.2794C>T (p.His932Tyr) rs121918048
NM_002693.2(POLG):c.2800_2801del (p.Lys934fs) rs796052907
NM_002693.2(POLG):c.2827C>T (p.Arg943Cys) rs1567186614
NM_002693.2(POLG):c.2828G>A (p.Arg943His) rs1567186613
NM_002693.2(POLG):c.2840A>G (p.Lys947Arg) rs796052891
NM_002693.2(POLG):c.2851T>A (p.Tyr951Asn) rs1567186591
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.2869G>T (p.Ala957Ser) rs121918051
NM_002693.2(POLG):c.2870C>T (p.Ala957Val) rs753160398
NM_002693.2(POLG):c.2897T>G (p.Leu966Arg) rs142347031
NM_002693.2(POLG):c.2982-1G>C rs1064793493
NM_002693.2(POLG):c.3014_3057del (p.Val1005fs) rs886041276
NM_002693.2(POLG):c.3057G>A (p.Trp1019Ter) rs1567185775
NM_002693.2(POLG):c.3067C>T (p.Gln1023Ter) rs1567185770
NM_002693.2(POLG):c.3104+1G>A rs138917386
NM_002693.2(POLG):c.3104+3A>T rs778573169
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3149del (p.Lys1050fs) rs1567185603
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.2(POLG):c.3155dup (p.Thr1053fs) rs1447799185
NM_002693.2(POLG):c.3241C>T (p.Arg1081Ter) rs767708989
NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln) rs140079523
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.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.3287G>T (p.Arg1096Leu) rs368435864
NM_002693.2(POLG):c.3313G>C (p.Ala1105Pro) rs753410045
NM_002693.2(POLG):c.3358_3361dup (p.Glu1121delinsValTer) rs1064793800
NM_002693.2(POLG):c.3409dup (p.Val1137fs) rs1555452461
NM_002693.2(POLG):c.3447dup (p.Ala1150fs) rs1567185026
NM_002693.2(POLG):c.3483-2A>G rs1057518035
NM_002693.2(POLG):c.3483-4_3497del rs756325504
NM_002693.2(POLG):c.3488T>G (p.Met1163Arg) rs113994100
NM_002693.2(POLG):c.3523C>T (p.Gln1175Ter) rs1567184117
NM_002693.2(POLG):c.3550G>A (p.Asp1184Asn) rs1131691575
NM_002693.2(POLG):c.3570_3573GAAG[1] (p.Lys1191_Glu1192insTer) rs1596348443
NM_002693.2(POLG):c.3572A>G (p.Lys1191Arg) rs1567183988
NM_002693.2(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.2(POLG):c.3609_3612dup (p.Gly1205fs) rs886043241
NM_002693.2(POLG):c.3630C>A (p.Tyr1210Ter) rs139562274
NM_002693.2(POLG):c.3630dup (p.Gly1211fs) rs113994101
NM_002693.2(POLG):c.3640C>T (p.Gln1214Ter) rs781256643
NM_002693.2(POLG):c.3643+2T>C rs1335880349
NM_002693.2(POLG):c.409C>T (p.Gln137Ter) rs1057517891
NM_002693.2(POLG):c.428C>T (p.Ala143Val) rs796052899
NM_002693.2(POLG):c.646del (p.Ser216fs) rs1567193844
NM_002693.2(POLG):c.660G>A (p.Trp220Ter) rs1596360430
NM_002693.2(POLG):c.679C>T (p.Arg227Trp) rs121918056
NM_002693.2(POLG):c.694C>T (p.Arg232Cys) rs770115219
NM_002693.2(POLG):c.695G>A (p.Arg232His) rs113994093
NM_002693.2(POLG):c.698dup (p.Tyr233Ter) rs1567192884
NM_002693.2(POLG):c.705G>A (p.Trp235Ter) rs1567192879
NM_002693.2(POLG):c.75G>A (p.Trp25Ter) rs1021719232
NM_002693.2(POLG):c.823C>T (p.Arg275Ter) rs1057517803
NM_002693.2(POLG):c.844T>G (p.Tyr282Asp) rs1290567099
NM_002693.2(POLG):c.8G>C (p.Arg3Pro) rs121918045
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.925C>T (p.Arg309Cys) rs886041592
NM_002693.2(POLG):c.951_961dup (p.Lys321fs) rs1596359629
NM_002693.3(POLG):c.1251-2A>G
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.3(POLG):c.172C>T (p.Gln58Ter)
NM_002693.3(POLG):c.1818del (p.Trp607fs)
NM_002693.3(POLG):c.1887del (p.Asp629fs)
NM_002693.3(POLG):c.1947C>A (p.Tyr649Ter)
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.2884dup (p.Ala962fs)
NM_002693.3(POLG):c.3156_3157CA[1] (p.Thr1053fs) rs1332921412
NM_002693.3(POLG):c.3286C>T rs201732356
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605

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