ClinVar Miner

List of variants in gene COQ8A reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 253
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147 0.00127
NM_020247.5(COQ8A):c.1378A>G (p.Ser460Gly) rs149364914 0.00071
NM_020247.5(COQ8A):c.67G>A (p.Val23Met) rs35582308 0.00058
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg) rs199619932 0.00048
NM_020247.5(COQ8A):c.1677C>G (p.His559Gln) rs200963031 0.00036
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val) rs142184584 0.00027
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_020247.5(COQ8A):c.1900G>A (p.Glu634Lys) rs149335528 0.00022
NM_020247.5(COQ8A):c.1556C>G (p.Thr519Ser) rs141260985 0.00016
NM_020247.5(COQ8A):c.1057C>T (p.Arg353Cys) rs373083392 0.00014
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn) rs147097934 0.00014
NM_020247.5(COQ8A):c.626C>T (p.Thr209Met) rs764173526 0.00010
NM_020247.5(COQ8A):c.1409A>G (p.Asn470Ser) rs200800365 0.00009
NM_020247.5(COQ8A):c.1535G>A (p.Arg512Gln) rs200115323 0.00009
NM_020247.5(COQ8A):c.11T>A (p.Ile4Lys) rs202075418 0.00008
NM_020247.5(COQ8A):c.794G>A (p.Arg265His) rs199696414 0.00008
NM_020247.5(COQ8A):c.1612C>T (p.Arg538Trp) rs201331131 0.00007
NM_020247.5(COQ8A):c.1777G>A (p.Val593Ile) rs774142518 0.00007
NM_020247.5(COQ8A):c.1198C>T (p.Arg400Trp) rs541836846 0.00006
NM_020247.5(COQ8A):c.137C>T (p.Thr46Met) rs187123516 0.00006
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser) rs119468009 0.00006
NM_020247.5(COQ8A):c.588+4C>T rs368446029 0.00006
NM_020247.5(COQ8A):c.664G>A (p.Val222Met) rs372435075 0.00006
NM_020247.5(COQ8A):c.892G>A (p.Glu298Lys) rs756432144 0.00006
NM_020247.5(COQ8A):c.1246C>T (p.Arg416Cys) rs151292389 0.00005
NM_020247.5(COQ8A):c.1407C>T (p.Tyr469=) rs773258464 0.00005
NM_020247.5(COQ8A):c.467T>C (p.Met156Thr) rs147812454 0.00005
NM_020247.5(COQ8A):c.1054G>A (p.Gly352Ser) rs536852535 0.00004
NM_020247.5(COQ8A):c.1237G>A (p.Ala413Thr) rs751932768 0.00004
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727 0.00004
NM_020247.5(COQ8A):c.785G>A (p.Arg262Gln) rs145422777 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020247.5(COQ8A):c.818C>T (p.Ala273Val) rs368872986 0.00004
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg) rs759470563 0.00003
NM_020247.5(COQ8A):c.1132G>A (p.Val378Met) rs375821684 0.00003
NM_020247.5(COQ8A):c.116C>T (p.Ala39Val) rs773489358 0.00003
NM_020247.5(COQ8A):c.1247G>A (p.Arg416His) rs767899984 0.00003
NM_020247.5(COQ8A):c.1450T>A (p.Phe484Ile) rs778967806 0.00003
NM_020247.5(COQ8A):c.742G>A (p.Val248Met) rs148376283 0.00003
NM_020247.5(COQ8A):c.771G>A (p.Glu257=) rs371867831 0.00003
NM_020247.5(COQ8A):c.968A>G (p.Asn323Ser) rs781073371 0.00003
NM_020247.5(COQ8A):c.1047G>A (p.Met349Ile) rs1473665143 0.00002
NM_020247.5(COQ8A):c.1060G>A (p.Glu354Lys) rs886046066 0.00002
NM_020247.5(COQ8A):c.1174G>A (p.Glu392Lys) rs760476900 0.00002
NM_020247.5(COQ8A):c.1189G>A (p.Val397Met) rs777934964 0.00002
NM_020247.5(COQ8A):c.1313G>A (p.Cys438Tyr) rs1659914808 0.00002
NM_020247.5(COQ8A):c.1334C>A (p.Thr445Lys) rs751500793 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020247.5(COQ8A):c.1717G>A (p.Asp573Asn) rs1026198961 0.00002
NM_020247.5(COQ8A):c.1720G>A (p.Glu574Lys) rs202058665 0.00002
NM_020247.5(COQ8A):c.1812G>A (p.Glu604=) rs887556564 0.00002
NM_020247.5(COQ8A):c.1877G>A (p.Arg626His) rs749400284 0.00002
NM_020247.5(COQ8A):c.211A>T (p.Asn71Tyr) rs779601942 0.00002
NM_020247.5(COQ8A):c.588G>A (p.Thr196=) rs758570123 0.00002
NM_020247.5(COQ8A):c.721G>T (p.Asp241Tyr) rs751309113 0.00002
NM_020247.5(COQ8A):c.724C>T (p.Pro242Ser) rs571967614 0.00002
NM_020247.5(COQ8A):c.739G>C (p.Ala247Pro) rs1659727817 0.00002
NM_020247.5(COQ8A):c.853+10C>T rs367945973 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020247.5(COQ8A):c.1021A>G (p.Ile341Val) rs754633292 0.00001
NM_020247.5(COQ8A):c.1055G>A (p.Gly352Asp) rs1172666352 0.00001
NM_020247.5(COQ8A):c.1090G>A (p.Val364Met) rs371269974 0.00001
NM_020247.5(COQ8A):c.1325T>G (p.Val442Gly) rs752733827 0.00001
NM_020247.5(COQ8A):c.1343T>C (p.Val448Ala) rs750053661 0.00001
NM_020247.5(COQ8A):c.1358T>C (p.Leu453Pro) rs928509224 0.00001
NM_020247.5(COQ8A):c.1383G>C (p.Gln461His) rs747485279 0.00001
NM_020247.5(COQ8A):c.1599C>A (p.Asp533Glu) rs777584892 0.00001
NM_020247.5(COQ8A):c.1613G>A (p.Arg538Gln) rs768524626 0.00001
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp) rs765235707 0.00001
NM_020247.5(COQ8A):c.1753G>C (p.Glu585Gln) rs758986425 0.00001
NM_020247.5(COQ8A):c.1919_*1del (p.Tyr640_Ter648delinsXaa) rs763379245 0.00001
NM_020247.5(COQ8A):c.1922G>C (p.Cys641Ser) rs764835684 0.00001
NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln) rs751042244 0.00001
NM_020247.5(COQ8A):c.335G>A (p.Ser112Asn) rs147889685 0.00001
NM_020247.5(COQ8A):c.337G>A (p.Glu113Lys) rs765966679 0.00001
NM_020247.5(COQ8A):c.344C>G (p.Pro115Arg) rs746577141 0.00001
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405 0.00001
NM_020247.5(COQ8A):c.493C>G (p.Gln165Glu) rs755181824 0.00001
NM_020247.5(COQ8A):c.503C>A (p.Ser168Tyr) rs748206532 0.00001
NM_020247.5(COQ8A):c.526G>A (p.Glu176Lys) rs776354118 0.00001
NM_020247.5(COQ8A):c.535G>A (p.Glu179Lys) rs931020734 0.00001
NM_020247.5(COQ8A):c.565G>A (p.Glu189Lys) rs755269625 0.00001
NM_020247.5(COQ8A):c.776A>G (p.Asn259Ser) rs1216629181 0.00001
NM_020247.5(COQ8A):c.819G>A (p.Ala273=) rs371866536 0.00001
NM_020247.5(COQ8A):c.957C>T (p.Asp319=) rs764147237 0.00001
NM_020247.5(COQ8A):c.973C>T (p.Arg325Trp) rs565573577 0.00001
NC_000001.10:g.(?_227149087)_(227174438_?)dup
NM_020247.5(COQ8A):c.1001G>A (p.Arg334Gln) rs759857986
NM_020247.5(COQ8A):c.1003C>T (p.Pro335Ser) rs1487879565
NM_020247.5(COQ8A):c.1008C>G (p.Phe336Leu)
NM_020247.5(COQ8A):c.1012G>A (p.Ala338Thr)
NM_020247.5(COQ8A):c.1018T>G (p.Ser340Ala) rs2148127790
NM_020247.5(COQ8A):c.1048A>G (p.Lys350Glu)
NM_020247.5(COQ8A):c.1080+5G>A
NM_020247.5(COQ8A):c.1080+6C>T
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
NM_020247.5(COQ8A):c.1085C>T (p.Pro362Leu)
NM_020247.5(COQ8A):c.10A>G (p.Ile4Val)
NM_020247.5(COQ8A):c.1100G>C (p.Ser367Thr)
NM_020247.5(COQ8A):c.1106A>G (p.Asn369Ser) rs751032737
NM_020247.5(COQ8A):c.1108A>G (p.Ser370Gly)
NM_020247.5(COQ8A):c.1117AAC[1] (p.Asn374del)
NM_020247.5(COQ8A):c.1150A>G (p.Met384Val) rs1572081427
NM_020247.5(COQ8A):c.1189G>T (p.Val397Leu)
NM_020247.5(COQ8A):c.1199G>A (p.Arg400Gln)
NM_020247.5(COQ8A):c.1201G>C (p.Glu401Gln)
NM_020247.5(COQ8A):c.1203G>T (p.Glu401Asp)
NM_020247.5(COQ8A):c.1215G>C (p.Glu405Asp)
NM_020247.5(COQ8A):c.1221C>G (p.Asp407Glu) rs1254419880
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln) rs763311061
NM_020247.5(COQ8A):c.1247G>T (p.Arg416Leu)
NM_020247.5(COQ8A):c.1252T>C (p.Phe418Leu) rs2148131420
NM_020247.5(COQ8A):c.1257-12_1257-9del
NM_020247.5(COQ8A):c.1257-6A>C
NM_020247.5(COQ8A):c.1274_1282del (p.His425_Phe428delinsLeu)
NM_020247.5(COQ8A):c.1276C>A (p.Pro426Thr)
NM_020247.5(COQ8A):c.1276C>G (p.Pro426Ala) rs1004253103
NM_020247.5(COQ8A):c.1284_1286del (p.Tyr429del) rs2148132740
NM_020247.5(COQ8A):c.1316G>A (p.Ser439Asn)
NM_020247.5(COQ8A):c.1324G>A (p.Val442Met)
NM_020247.5(COQ8A):c.1339C>G (p.Leu447Val)
NM_020247.5(COQ8A):c.1351T>G (p.Phe451Val)
NM_020247.5(COQ8A):c.1369G>A (p.Glu457Lys)
NM_020247.5(COQ8A):c.1390C>T (p.Arg464Trp)
NM_020247.5(COQ8A):c.1396G>A (p.Glu466Lys)
NM_020247.5(COQ8A):c.1398+13C>T
NM_020247.5(COQ8A):c.1398+1_1398+5dup
NM_020247.5(COQ8A):c.1398+3T>C
NM_020247.5(COQ8A):c.1398+3_1398+6del rs863223886
NM_020247.5(COQ8A):c.1406A>C (p.Tyr469Ser)
NM_020247.5(COQ8A):c.1408A>G (p.Asn470Asp)
NM_020247.5(COQ8A):c.1440C>G (p.Phe480Leu) rs12593
NM_020247.5(COQ8A):c.1445T>C (p.Phe482Ser)
NM_020247.5(COQ8A):c.1445_1446delinsAT (p.Phe482Tyr)
NM_020247.5(COQ8A):c.1452C>G (p.Phe484Leu)
NM_020247.5(COQ8A):c.145G>A (p.Glu49Lys)
NM_020247.5(COQ8A):c.1463A>G (p.Asp488Gly)
NM_020247.5(COQ8A):c.1470C>A (p.Asn490Lys)
NM_020247.5(COQ8A):c.1478A>G (p.Asn493Ser)
NM_020247.5(COQ8A):c.1507-17G>A
NM_020247.5(COQ8A):c.150G>T (p.Gln50His) rs2148052080
NM_020247.5(COQ8A):c.1518G>A (p.Leu506=) rs1259658133
NM_020247.5(COQ8A):c.1521T>G (p.Asp507Glu) rs1468482530
NM_020247.5(COQ8A):c.1534C>T (p.Arg512Trp)
NM_020247.5(COQ8A):c.1539A>C (p.Glu513Asp)
NM_020247.5(COQ8A):c.1558G>A (p.Asp520Asn)
NM_020247.5(COQ8A):c.156C>T (p.Gly52=)
NM_020247.5(COQ8A):c.1570C>G (p.Gln524Glu)
NM_020247.5(COQ8A):c.1572+6T>A
NM_020247.5(COQ8A):c.1573-3C>G
NM_020247.5(COQ8A):c.1593CAGGGA[1] (p.531DR[1]) rs1660021291
NM_020247.5(COQ8A):c.1603G>A (p.Glu535Lys)
NM_020247.5(COQ8A):c.1610T>C (p.Val537Ala)
NM_020247.5(COQ8A):c.1610T>G (p.Val537Gly) rs199724504
NM_020247.5(COQ8A):c.1616C>T (p.Ala539Val)
NM_020247.5(COQ8A):c.1629G>T (p.Glu543Asp) rs1282252939
NM_020247.5(COQ8A):c.1670A>G (p.Asp557Gly)
NM_020247.5(COQ8A):c.1671C>A (p.Asp557Glu) rs370899166
NM_020247.5(COQ8A):c.1672G>A (p.Ala558Thr)
NM_020247.5(COQ8A):c.1676A>C (p.His559Pro) rs902464326
NM_020247.5(COQ8A):c.1677C>A (p.His559Gln) rs200963031
NM_020247.5(COQ8A):c.1681G>A (p.Asp561Asn) rs2148142552
NM_020247.5(COQ8A):c.169A>G (p.Lys57Glu)
NM_020247.5(COQ8A):c.1715C>T (p.Ser572Phe) rs1572089312
NM_020247.5(COQ8A):c.1721A>G (p.Glu574Gly)
NM_020247.5(COQ8A):c.1723C>G (p.Pro575Ala)
NM_020247.5(COQ8A):c.1753G>A (p.Glu585Lys) rs758986425
NM_020247.5(COQ8A):c.177+6G>T
NM_020247.5(COQ8A):c.1783C>G (p.Leu595Val)
NM_020247.5(COQ8A):c.178G>A (p.Gly60Ser) rs369252071
NM_020247.5(COQ8A):c.1792C>T (p.Arg598Cys)
NM_020247.5(COQ8A):c.1793G>A (p.Arg598His)
NM_020247.5(COQ8A):c.1798G>A (p.Val600Ile)
NM_020247.5(COQ8A):c.1802C>T (p.Pro601Leu)
NM_020247.5(COQ8A):c.1805C>A (p.Pro602Gln) rs61995958
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020247.5(COQ8A):c.1813G>A (p.Glu605Lys) rs1572089727
NM_020247.5(COQ8A):c.1817C>A (p.Thr606Asn)
NM_020247.5(COQ8A):c.1830C>T (p.His610=)
NM_020247.5(COQ8A):c.1831A>G (p.Arg611Gly) rs1553281394
NM_020247.5(COQ8A):c.1842_1844del (p.Gly615del)
NM_020247.5(COQ8A):c.1843G>A (p.Gly615Ser)
NM_020247.5(COQ8A):c.1879T>C (p.Phe627Leu)
NM_020247.5(COQ8A):c.1895T>C (p.Met632Thr)
NM_020247.5(COQ8A):c.1900G>C (p.Glu634Gln)
NM_020247.5(COQ8A):c.1916A>G (p.Asn639Ser)
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys) rs555171534
NM_020247.5(COQ8A):c.1942T>C (p.Ter648Gln) rs766591347
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser) rs778948697
NM_020247.5(COQ8A):c.227A>G (p.Glu76Gly)
NM_020247.5(COQ8A):c.234G>C (p.Glu78Asp)
NM_020247.5(COQ8A):c.251C>T (p.Pro84Leu)
NM_020247.5(COQ8A):c.260C>T (p.Ala87Val) rs1658478354
NM_020247.5(COQ8A):c.262G>A (p.Gly88Arg)
NM_020247.5(COQ8A):c.281C>T (p.Ser94Phe)
NM_020247.5(COQ8A):c.292G>A (p.Ala98Thr)
NM_020247.5(COQ8A):c.298G>A (p.Asp100Asn)
NM_020247.5(COQ8A):c.308C>T (p.Ala103Val)
NM_020247.5(COQ8A):c.319C>G (p.Leu107Val)
NM_020247.5(COQ8A):c.341G>A (p.Gly114Asp)
NM_020247.5(COQ8A):c.355T>C (p.Tyr119His)
NM_020247.5(COQ8A):c.392C>T (p.Pro131Leu) rs2148062236
NM_020247.5(COQ8A):c.394G>A (p.Gly132Ser)
NM_020247.5(COQ8A):c.401C>G (p.Ala134Gly) rs1553276975
NM_020247.5(COQ8A):c.415G>T (p.Gly139Cys)
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.446C>T (p.Pro149Leu)
NM_020247.5(COQ8A):c.515G>A (p.Gly172Asp)
NM_020247.5(COQ8A):c.521C>T (p.Thr174Ile)
NM_020247.5(COQ8A):c.544C>T (p.Arg182Trp)
NM_020247.5(COQ8A):c.560G>A (p.Arg187His)
NM_020247.5(COQ8A):c.578A>G (p.His193Arg)
NM_020247.5(COQ8A):c.595G>A (p.Glu199Lys)
NM_020247.5(COQ8A):c.599A>G (p.His200Arg)
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)
NM_020247.5(COQ8A):c.611G>A (p.Arg204Gln)
NM_020247.5(COQ8A):c.62C>A (p.Ala21Glu)
NM_020247.5(COQ8A):c.641T>G (p.Leu214Arg) rs371870568
NM_020247.5(COQ8A):c.652G>A (p.Gly218Arg)
NM_020247.5(COQ8A):c.655+3A>C rs1553277145
NM_020247.5(COQ8A):c.656-1G>T rs903436781
NM_020247.5(COQ8A):c.670C>G (p.Leu224Val)
NM_020247.5(COQ8A):c.679G>A (p.Gly227Arg)
NM_020247.5(COQ8A):c.68T>C (p.Val23Ala)
NM_020247.5(COQ8A):c.706A>G (p.Ser236Gly)
NM_020247.5(COQ8A):c.712C>T (p.Arg238Cys)
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala) rs886046065
NM_020247.5(COQ8A):c.734A>G (p.Lys245Arg)
NM_020247.5(COQ8A):c.754A>G (p.Ser252Gly) rs2148124727
NM_020247.5(COQ8A):c.758C>T (p.Pro253Leu)
NM_020247.5(COQ8A):c.777T>A (p.Asn259Lys) rs778140760
NM_020247.5(COQ8A):c.790G>A (p.Val264Met)
NM_020247.5(COQ8A):c.793C>T (p.Arg265Cys)
NM_020247.5(COQ8A):c.797C>T (p.Thr266Met)
NM_020247.5(COQ8A):c.832G>C (p.Gly278Arg)
NM_020247.5(COQ8A):c.853+7G>A rs1316934190
NM_020247.5(COQ8A):c.871C>T (p.Pro291Ser)
NM_020247.5(COQ8A):c.872C>T (p.Pro291Leu)
NM_020247.5(COQ8A):c.877C>A (p.Leu293Met)
NM_020247.5(COQ8A):c.87C>G (p.His29Gln)
NM_020247.5(COQ8A):c.891C>G (p.Phe297Leu)
NM_020247.5(COQ8A):c.892G>C (p.Glu298Gln) rs756432144
NM_020247.5(COQ8A):c.898G>T (p.Val300Leu)
NM_020247.5(COQ8A):c.913G>A (p.Asp305Asn)
NM_020247.5(COQ8A):c.919A>G (p.Met307Val)
NM_020247.5(COQ8A):c.921G>A (p.Met307Ile) rs2148126881
NM_020247.5(COQ8A):c.940-3C>T
NM_020247.5(COQ8A):c.949AAC[1] (p.Asn318del) rs759061098
NM_020247.5(COQ8A):c.950A>G (p.Asn317Ser) rs759826134
NM_020247.5(COQ8A):c.955G>A (p.Asp319Asn)
NM_020247.5(COQ8A):c.976G>A (p.Asp326Asn)
NM_020247.5(COQ8A):c.97G>A (p.Gly33Arg) rs552784842
NM_020247.5(COQ8A):c.998A>G (p.Glu333Gly)

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