ClinVar Miner

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

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Total variants: 81
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HGVS dbSNP
NM_002693.2(POLG):c.1001G>A (p.Arg334Lys) rs776437525
NM_002693.2(POLG):c.1084C>G (p.Leu362Val) rs763248358
NM_002693.2(POLG):c.1186T>C (p.Cys396Arg) rs1567191994
NM_002693.2(POLG):c.1223_1225AGC[2] (p.Gln410del) rs765446994
NM_002693.2(POLG):c.125_139dupGGCAGCAGCAGCAGC (p.Gln46_Gln47insArgGlnGlnGlnGln) rs780010436
NM_002693.2(POLG):c.1327C>T (p.Arg443Cys) rs747485523
NM_002693.2(POLG):c.1369C>T (p.Arg457Trp) rs766242100
NM_002693.2(POLG):c.1370G>A (p.Arg457Gln)
NM_002693.2(POLG):c.1403A>G (p.Asn468Ser) rs368614463
NM_002693.2(POLG):c.1452G>C (p.Trp484Cys) rs774879097
NM_002693.2(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.2(POLG):c.1493A>C (p.Lys498Thr) rs769637557
NM_002693.2(POLG):c.1498G>A (p.Ala500Thr) rs745506700
NM_002693.2(POLG):c.154C>A (p.Gln52Lys) rs376683989
NM_002693.2(POLG):c.158A>C (p.Gln53Pro) rs527965158
NM_002693.2(POLG):c.159A>T (p.Gln53His) rs587781118
NM_002693.2(POLG):c.1639G>T (p.Ala547Ser) rs779353857
NM_002693.2(POLG):c.1640C>A (p.Ala547Asp) rs1567190832
NM_002693.2(POLG):c.1648C>G (p.Gln550Glu) rs1227630175
NM_002693.2(POLG):c.1684C>T (p.Arg562Trp) rs756952607
NM_002693.2(POLG):c.1713-4G>A rs201857960
NM_002693.2(POLG):c.1736G>A (p.Arg579Gln)
NM_002693.2(POLG):c.17G>C (p.Trp6Ser) rs1057524249
NM_002693.2(POLG):c.1849C>T (p.Arg617Cys) rs144374017
NM_002693.2(POLG):c.1894G>A (p.Ala632Thr)
NM_002693.2(POLG):c.1898A>C (p.Lys633Thr) rs568913937
NM_002693.2(POLG):c.1904C>T (p.Pro635Leu) rs773994204
NM_002693.2(POLG):c.191C>G (p.Ser64Trp) rs1397887879
NM_002693.2(POLG):c.2020G>A (p.Gly674Ser) rs538978071
NM_002693.2(POLG):c.2045C>G (p.Thr682Ser) rs1328436909
NM_002693.2(POLG):c.2074_2076GAA[1] (p.Glu693del)
NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) rs776848222
NM_002693.2(POLG):c.2111A>C (p.Lys704Thr)
NM_002693.2(POLG):c.2126G>A (p.Arg709Gln) rs1015705626
NM_002693.2(POLG):c.2165G>T (p.Arg722Leu) rs185645212
NM_002693.2(POLG):c.2177A>G (p.Lys726Arg) rs774599342
NM_002693.2(POLG):c.2224G>A (p.Val742Met) rs147827654
NM_002693.2(POLG):c.2369G>A (p.Arg790His) rs191490663
NM_002693.2(POLG):c.2426+10C>G rs1567187739
NM_002693.2(POLG):c.2437_2439GTG[1] (p.Val814del)
NM_002693.2(POLG):c.2446C>G (p.Leu816Val) rs748262645
NM_002693.2(POLG):c.2483A>G (p.His828Arg) rs533807211
NM_002693.2(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.2(POLG):c.2654C>T (p.Thr885Ile) rs1224799376
NM_002693.2(POLG):c.2791C>A (p.Leu931Ile) rs1567186644
NM_002693.2(POLG):c.2830G>A (p.Glu944Lys) rs768653086
NM_002693.2(POLG):c.2845_2847del (p.Phe949del) rs1567186596
NM_002693.2(POLG):c.2915G>A (p.Arg972Gln) rs200309005
NM_002693.2(POLG):c.2984A>G (p.Tyr995Cys) rs749458217
NM_002693.2(POLG):c.2987G>A (p.Arg996Gln) rs770236576
NM_002693.2(POLG):c.2998G>A (p.Glu1000Lys) rs1412887168
NM_002693.2(POLG):c.3025A>T (p.Asn1009Tyr) rs1567185808
NM_002693.2(POLG):c.3040A>G (p.Arg1014Gly) rs764195223
NM_002693.2(POLG):c.3046G>A (p.Glu1016Lys) rs763290547
NM_002693.2(POLG):c.3077G>A (p.Arg1026His) rs777038915
NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) rs551708243
NM_002693.2(POLG):c.3101G>A (p.Arg1034Lys) rs201014720
NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) rs150233690
NM_002693.2(POLG):c.3170T>C (p.Met1057Thr) rs966144250
NM_002693.2(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186
NM_002693.2(POLG):c.3235A>C (p.Ile1079Leu) rs756393846
NM_002693.2(POLG):c.3266A>G (p.Gln1089Arg) rs369716454
NM_002693.2(POLG):c.3273+8G>A rs776468044
NM_002693.2(POLG):c.3293A>T (p.Asn1098Ile) rs587780421
NM_002693.2(POLG):c.3298G>A (p.Val1100Met) rs1567185242
NM_002693.2(POLG):c.3306G>C (p.Gln1102His) rs1336274767
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.347C>G (p.Pro116Arg) rs747828222
NM_002693.2(POLG):c.3542G>A (p.Ser1181Asn) rs149921636
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) rs369544574
NM_002693.2(POLG):c.3584T>G (p.Met1195Arg) rs758720361
NM_002693.2(POLG):c.431A>G (p.Gln144Arg)
NM_002693.2(POLG):c.460G>A (p.Ala154Thr) rs753858440
NM_002693.2(POLG):c.538C>T (p.Pro180Ser) rs1567193954
NM_002693.2(POLG):c.611C>G (p.Ala204Gly) rs1015074661
NM_002693.2(POLG):c.635C>T (p.Ala212Val) rs751130039
NM_002693.2(POLG):c.70C>T (p.Arg24Cys) rs1196273210
NM_002693.2(POLG):c.729C>A (p.Asp243Glu) rs757917194
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.2(POLG):c.855G>C (p.Gln285His) rs141367015

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