ClinVar Miner

List of variants in gene POLG reported as pathogenic by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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Total variants: 73
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HGVS dbSNP
NM_001126131.2(POLG):c.1268_1269CT[1] (p.Leu424fs) rs796052908
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.3218C>T (p.Pro1073Leu) rs267606959
NM_001126131.2(POLG):c.3430_3433dup (p.Asp1145fs) rs1567185048
NM_001126131.2(POLG):c.3490_3493dup (p.Ala1165fs) rs778115255
NM_002693.2(POLG):c.1120C>T (p.Arg374Ter) rs960142425
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.1562del (p.Pro521fs) rs1567191094
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.1874C>T (p.Pro625Leu) rs1064794214
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.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.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.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.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.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.2827C>T (p.Arg943Cys) rs1567186614
NM_002693.2(POLG):c.2828G>A (p.Arg943His) rs1567186613
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.2870C>T (p.Ala957Val) rs753160398
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.3149del (p.Lys1050fs) rs1567185603
NM_002693.2(POLG):c.3241C>T (p.Arg1081Ter) rs767708989
NM_002693.2(POLG):c.3285C>G (p.Ser1095Arg) rs761649878
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
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.3572A>G (p.Lys1191Arg) rs1567183988
NM_002693.2(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.2(POLG):c.3640C>T (p.Gln1214Ter) rs781256643
NM_002693.2(POLG):c.428C>T (p.Ala143Val) rs796052899
NM_002693.2(POLG):c.679C>T (p.Arg227Trp) rs121918056
NM_002693.2(POLG):c.698dup (p.Tyr233Ter) rs1567192884
NM_002693.2(POLG):c.705G>A (p.Trp235Ter) rs1567192879
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.3286C>T rs201732356

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