ClinVar Miner

List of variants reported as uncertain significance for Progressive sclerosing poliodystrophy by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_002693.3(POLG):c.2369G>A (p.Arg790His) rs191490663 0.00021
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_002693.3(POLG):c.1001G>A (p.Arg334Lys) rs776437525 0.00009
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_002693.3(POLG):c.1904C>T (p.Pro635Leu) rs773994204 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.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_002693.3(POLG):c.1684C>T (p.Arg562Trp) rs756952607 0.00005
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu) rs776848222 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.1648C>G (p.Gln550Glu) rs1227630175 0.00003
NM_002693.3(POLG):c.2111A>C (p.Lys704Thr) rs1049107490 0.00003
NM_002693.3(POLG):c.2830G>A (p.Glu944Lys) rs768653086 0.00003
NM_002693.3(POLG):c.2987G>A (p.Arg996Gln) rs770236576 0.00003
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.2020G>A (p.Gly674Ser) rs538978071 0.00002
NM_002693.3(POLG):c.2126G>A (p.Arg709Gln) rs1015705626 0.00002
NM_002693.3(POLG):c.2446C>G (p.Leu816Val) rs748262645 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.3266A>G (p.Gln1089Arg) rs369716454 0.00002
NM_002693.3(POLG):c.3273+8G>A rs776468044 0.00002
NM_002693.3(POLG):c.3671T>C (p.Ile1224Thr) rs779072487 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.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.1736G>A (p.Arg579Gln) rs746406535 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.2045C>G (p.Thr682Ser) rs1328436909 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.2483A>G (p.His828Arg) rs533807211 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.3204C>G (p.Asp1068Glu) rs1057523186 0.00001
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn) rs149921636 0.00001
NM_002693.3(POLG):c.3680C>A (p.Thr1227Asn) rs775517153 0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) rs1056580076 0.00001
NM_002693.3(POLG):c.635C>T (p.Ala212Val) rs751130039 0.00001
NM_002693.3(POLG):c.855G>C (p.Gln285His) rs141367015 0.00001
NM_002693.2(POLG):c.125_139dup rs780010436
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.1452G>C (p.Trp484Cys) rs774879097
NM_002693.3(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.3(POLG):c.158A>C (p.Gln53Pro) rs527965158
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.2074GAA[1] (p.Glu693del) rs760784347
NM_002693.3(POLG):c.2165G>T (p.Arg722Leu) rs185645212
NM_002693.3(POLG):c.2426+10C>G rs1567187739
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del) rs1596353095
NM_002693.3(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.3(POLG):c.2654C>T (p.Thr885Ile) rs1224799376
NM_002693.3(POLG):c.2791C>A (p.Leu931Ile) rs1567186644
NM_002693.3(POLG):c.2845_2847del (p.Phe949del) rs1567186596
NM_002693.3(POLG):c.2915G>A (p.Arg972Gln) rs200309005
NM_002693.3(POLG):c.3025A>T (p.Asn1009Tyr) rs1567185808
NM_002693.3(POLG):c.3235A>C (p.Ile1079Leu) rs756393846
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.347C>G (p.Pro116Arg) rs747828222
NM_002693.3(POLG):c.3584T>G (p.Met1195Arg) rs758720361
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.70C>T (p.Arg24Cys) rs1196273210
NM_002693.3(POLG):c.729C>A (p.Asp243Glu) rs757917194
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950

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