ClinVar Miner

List of variants in gene COQ8A reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 507
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.38143
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_020247.5(COQ8A):c.655+9G>A rs146526153 0.00658
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228 0.00567
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_020247.5(COQ8A):c.384C>T (p.Ala128=) rs139970507 0.00250
NM_020247.5(COQ8A):c.948C>T (p.Leu316=) rs55637780 0.00229
NM_020247.5(COQ8A):c.618G>A (p.Val206=) rs115855910 0.00220
NM_020247.5(COQ8A):c.78C>T (p.His26=) rs150541057 0.00214
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr) rs150696959 0.00153
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=) rs141270350 0.00152
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893 0.00141
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147 0.00127
NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys) rs141725964 0.00089
NM_020247.5(COQ8A):c.1378A>G (p.Ser460Gly) rs149364914 0.00071
NM_020247.5(COQ8A):c.1797C>T (p.Leu599=) rs139551241 0.00070
NM_020247.5(COQ8A):c.240C>T (p.His80=) rs113667144 0.00068
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.258A>C (p.Ala86=) rs137872711 0.00043
NM_020247.5(COQ8A):c.1399-13G>A rs73087649 0.00041
NM_020247.5(COQ8A):c.1677C>G (p.His559Gln) rs200963031 0.00036
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=) rs139570869 0.00034
NM_020247.5(COQ8A):c.1710C>T (p.Phe570=) rs139305619 0.00029
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val) rs142184584 0.00027
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094 0.00026
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.1332C>T (p.Thr444=) rs138727410 0.00019
NM_020247.5(COQ8A):c.385G>A (p.Gly129Arg) rs372953250 0.00018
NM_020247.5(COQ8A):c.1556C>G (p.Thr519Ser) rs141260985 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_020247.5(COQ8A):c.730+7C>T rs370924314 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.1572+7G>A rs371874740 0.00014
NM_020247.5(COQ8A):c.259G>A (p.Ala87Thr) rs138572539 0.00014
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403 0.00013
NM_020247.5(COQ8A):c.891C>T (p.Phe297=) rs55968053 0.00013
NM_020247.5(COQ8A):c.279C>T (p.Phe93=) rs753305806 0.00012
NM_020247.5(COQ8A):c.1011C>T (p.Ala337=) rs36006006 0.00011
NM_020247.5(COQ8A):c.1162+12G>A rs200060496 0.00011
NM_020247.5(COQ8A):c.1698G>A (p.Leu566=) rs543820987 0.00011
NM_020247.5(COQ8A):c.1752C>T (p.Thr584=) rs201865243 0.00011
NM_020247.5(COQ8A):c.525C>T (p.Ala175=) rs201787750 0.00011
NM_020247.5(COQ8A):c.1215G>A (p.Glu405=) rs149048093 0.00010
NM_020247.5(COQ8A):c.626C>T (p.Thr209Met) rs764173526 0.00010
NM_020247.5(COQ8A):c.1014C>T (p.Ala338=) rs374358866 0.00009
NM_020247.5(COQ8A):c.1257-20G>C rs752645843 0.00009
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.853+13G>A rs374691420 0.00009
NM_020247.5(COQ8A):c.11T>A (p.Ile4Lys) rs202075418 0.00008
NM_020247.5(COQ8A):c.1899C>T (p.Phe633=) rs150569155 0.00008
NM_020247.5(COQ8A):c.794G>A (p.Arg265His) rs199696414 0.00008
NM_020247.5(COQ8A):c.1081-6C>T rs774626751 0.00007
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.789C>T (p.Ile263=) rs375123701 0.00007
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020247.5(COQ8A):c.137C>T (p.Thr46Met) rs187123516 0.00006
NM_020247.5(COQ8A):c.1399-14C>T rs148742677 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.589-13C>T rs202175838 0.00006
NM_020247.5(COQ8A):c.664G>A (p.Val222Met) rs372435075 0.00006
NM_020247.5(COQ8A):c.741C>T (p.Ala247=) rs554280397 0.00006
NM_020247.5(COQ8A):c.892G>A (p.Glu298Lys) rs756432144 0.00006
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613 0.00005
NM_020247.5(COQ8A):c.1246C>T (p.Arg416Cys) rs151292389 0.00005
NM_020247.5(COQ8A):c.1395C>T (p.Asn465=) rs567318021 0.00005
NM_020247.5(COQ8A):c.1407C>T (p.Tyr469=) rs773258464 0.00005
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met) rs578189699 0.00005
NM_020247.5(COQ8A):c.1554C>T (p.Phe518=) rs747135135 0.00005
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=) rs774789966 0.00005
NM_020247.5(COQ8A):c.467T>C (p.Met156Thr) rs147812454 0.00005
NM_020247.5(COQ8A):c.798G>A (p.Thr266=) rs750042754 0.00005
NM_020247.5(COQ8A):c.1054G>A (p.Gly352Ser) rs536852535 0.00004
NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter) rs753254213 0.00004
NM_020247.5(COQ8A):c.1236C>T (p.Ala412=) rs764541059 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.225A>C (p.Pro75=) rs1026870767 0.00004
NM_020247.5(COQ8A):c.357C>T (p.Tyr119=) rs754521569 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.1507-4C>G rs569464425 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.812G>A (p.Arg271His) rs765859566 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_020247.5(COQ8A):c.968A>G (p.Asn323Ser) rs781073371 0.00003
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.1257-9C>T rs200440257 0.00002
NM_020247.5(COQ8A):c.1334C>A (p.Thr445Lys) rs751500793 0.00002
NM_020247.5(COQ8A):c.1507-15T>C rs549578296 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.1742dup (p.Ser582fs) rs772127266 0.00002
NM_020247.5(COQ8A):c.178-8C>T rs200449167 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.309G>A (p.Ala103=) rs1268268386 0.00002
NM_020247.5(COQ8A):c.564C>T (p.Pro188=) rs140897240 0.00002
NM_020247.5(COQ8A):c.588G>A (p.Thr196=) rs758570123 0.00002
NM_020247.5(COQ8A):c.589-18T>C rs143981558 0.00002
NM_020247.5(COQ8A):c.594C>T (p.Ser198=) rs138547552 0.00002
NM_020247.5(COQ8A):c.687G>A (p.Leu229=) rs752409331 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.731-9C>T rs367603340 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.901C>T (p.Arg301Trp) rs140246430 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020247.5(COQ8A):c.939+13G>A rs376314702 0.00002
NM_020247.5(COQ8A):c.1021A>G (p.Ile341Val) rs754633292 0.00001
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg) rs548317868 0.00001
NM_020247.5(COQ8A):c.1055G>A (p.Gly352Asp) rs1172666352 0.00001
NM_020247.5(COQ8A):c.1080+16C>T rs534585974 0.00001
NM_020247.5(COQ8A):c.1080+1G>A rs767634570 0.00001
NM_020247.5(COQ8A):c.1090G>A (p.Val364Met) rs371269974 0.00001
NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter) rs747150601 0.00001
NM_020247.5(COQ8A):c.1140C>T (p.Asn380=) rs367878969 0.00001
NM_020247.5(COQ8A):c.1287T>C (p.Tyr429=) rs1256698126 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.1399-11G>A rs1165462325 0.00001
NM_020247.5(COQ8A):c.1399-12C>T rs377529632 0.00001
NM_020247.5(COQ8A):c.1506+12G>A rs922061872 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.1659+14C>T rs1444332878 0.00001
NM_020247.5(COQ8A):c.1660-14C>T rs1006093394 0.00001
NM_020247.5(COQ8A):c.1746C>T (p.Ser582=) rs750092609 0.00001
NM_020247.5(COQ8A):c.1753G>C (p.Glu585Gln) rs758986425 0.00001
NM_020247.5(COQ8A):c.1773T>C (p.Ile591=) rs369502091 0.00001
NM_020247.5(COQ8A):c.1776C>T (p.Pro592=) rs7545723 0.00001
NM_020247.5(COQ8A):c.1821C>T (p.Tyr607=) rs201618750 0.00001
NM_020247.5(COQ8A):c.1866G>A (p.Lys622=) rs191944347 0.00001
NM_020247.5(COQ8A):c.1922G>C (p.Cys641Ser) rs764835684 0.00001
NM_020247.5(COQ8A):c.25A>G (p.Ile9Val) rs529609184 0.00001
NM_020247.5(COQ8A):c.297C>T (p.Pro99=) rs543084403 0.00001
NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln) rs751042244 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.471C>G (p.Gly157=) rs913285670 0.00001
NM_020247.5(COQ8A):c.491dup (p.His164fs) rs778247643 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.559C>T (p.Arg187Cys) rs761203099 0.00001
NM_020247.5(COQ8A):c.565G>A (p.Glu189Lys) rs755269625 0.00001
NM_020247.5(COQ8A):c.588+1G>C rs1474965033 0.00001
NM_020247.5(COQ8A):c.589-3C>G rs1229054489 0.00001
NM_020247.5(COQ8A):c.629_630del (p.Arg210fs) rs745867840 0.00001
NM_020247.5(COQ8A):c.696C>T (p.Val232=) rs1000444018 0.00001
NM_020247.5(COQ8A):c.731-8G>A rs762881309 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.854-12C>T rs771911875 0.00001
NM_020247.5(COQ8A):c.909C>T (p.Ser303=) rs202036077 0.00001
NM_020247.5(COQ8A):c.912G>A (p.Ala304=) rs771956000 0.00001
NM_020247.5(COQ8A):c.940-6C>G rs1221083461 0.00001
NM_020247.5(COQ8A):c.954C>T (p.Asn318=) rs777988947 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_?)del
NC_000001.10:g.(?_227149087)_(227174438_?)dup
NC_000001.10:g.(?_227165130)_(227174438_?)del
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>T (p.Phe336=)
NM_020247.5(COQ8A):c.1011C>A (p.Ala337=) rs36006006
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) rs755933881
NM_020247.5(COQ8A):c.1018T>G (p.Ser340Ala) rs2148127790
NM_020247.5(COQ8A):c.1020C>A (p.Ser340=) rs181558991
NM_020247.5(COQ8A):c.1032G>A (p.Val344=)
NM_020247.5(COQ8A):c.1048A>G (p.Lys350Glu)
NM_020247.5(COQ8A):c.1059C>T (p.Arg353=)
NM_020247.5(COQ8A):c.1068C>T (p.Ala356=)
NM_020247.5(COQ8A):c.1080+10C>T rs1236699087
NM_020247.5(COQ8A):c.1080+5G>A
NM_020247.5(COQ8A):c.1080+6C>T
NM_020247.5(COQ8A):c.1080+7G>A rs1207810925
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
NM_020247.5(COQ8A):c.1081-4dup rs754148330
NM_020247.5(COQ8A):c.1081-5C>T
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.1122C>T (p.Asn374=)
NM_020247.5(COQ8A):c.1131C>T (p.Ala377=)
NM_020247.5(COQ8A):c.1162+19G>A
NM_020247.5(COQ8A):c.1162+7G>A
NM_020247.5(COQ8A):c.1162+7G>C rs1024405380
NM_020247.5(COQ8A):c.1163-2A>G rs1572081759
NM_020247.5(COQ8A):c.1163-5C>T
NM_020247.5(COQ8A):c.1173C>T (p.Pro391=) rs541611601
NM_020247.5(COQ8A):c.1189G>T (p.Val397Leu)
NM_020247.5(COQ8A):c.1191G>A (p.Val397=) rs751845468
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.1204C>T (p.Leu402=)
NM_020247.5(COQ8A):c.1209C>T (p.Ala403=)
NM_020247.5(COQ8A):c.1215G>C (p.Glu405Asp)
NM_020247.5(COQ8A):c.1225C>T (p.Gln409Ter)
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln) rs763311061
NM_020247.5(COQ8A):c.1232_1233del (p.Glu411fs)
NM_020247.5(COQ8A):c.1247G>T (p.Arg416Leu)
NM_020247.5(COQ8A):c.1251G>A (p.Lys417=)
NM_020247.5(COQ8A):c.1252T>C (p.Phe418Leu) rs2148131420
NM_020247.5(COQ8A):c.1256+11C>G rs564593360
NM_020247.5(COQ8A):c.1256+11C>T rs564593360
NM_020247.5(COQ8A):c.1256+12G>A rs772918474
NM_020247.5(COQ8A):c.1256+12G>C rs772918474
NM_020247.5(COQ8A):c.1256+14C>T
NM_020247.5(COQ8A):c.1256+15C>T rs371169984
NM_020247.5(COQ8A):c.1256+16G>A
NM_020247.5(COQ8A):c.1256+7C>T
NM_020247.5(COQ8A):c.1256+8C>T
NM_020247.5(COQ8A):c.1256+9C>T
NM_020247.5(COQ8A):c.1257-11C>T
NM_020247.5(COQ8A):c.1257-12_1257-9del
NM_020247.5(COQ8A):c.1257-14C>T
NM_020247.5(COQ8A):c.1257-5C>T
NM_020247.5(COQ8A):c.1266_1267insT (p.Lys423Ter) rs2148132672
NM_020247.5(COQ8A):c.1274_1282del (p.His425_Phe428delinsLeu)
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.1293T>G (p.Pro431=) rs1572083099
NM_020247.5(COQ8A):c.1315dup (p.Ser439fs)
NM_020247.5(COQ8A):c.1316G>A (p.Ser439Asn)
NM_020247.5(COQ8A):c.1323T>C (p.His441=)
NM_020247.5(COQ8A):c.1324G>A (p.Val442Met)
NM_020247.5(COQ8A):c.1335A>C (p.Thr445=)
NM_020247.5(COQ8A):c.1335A>G (p.Thr445=)
NM_020247.5(COQ8A):c.1339C>G (p.Leu447Val)
NM_020247.5(COQ8A):c.1344G>A (p.Val448=)
NM_020247.5(COQ8A):c.1351T>G (p.Phe451Val)
NM_020247.5(COQ8A):c.1358del (p.Leu453fs) rs1271428051
NM_020247.5(COQ8A):c.1369G>A (p.Glu457Lys)
NM_020247.5(COQ8A):c.1396G>A (p.Glu466Lys)
NM_020247.5(COQ8A):c.1398+12C>A rs774158999
NM_020247.5(COQ8A):c.1398+13C>T
NM_020247.5(COQ8A):c.1398+16C>G
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.1398+7C>T
NM_020247.5(COQ8A):c.1399-7T>C
NM_020247.5(COQ8A):c.1399-9T>C rs2148134401
NM_020247.5(COQ8A):c.1406A>C (p.Tyr469Ser)
NM_020247.5(COQ8A):c.1408A>G (p.Asn470Asp)
NM_020247.5(COQ8A):c.1410C>T (p.Asn470=) rs1659956153
NM_020247.5(COQ8A):c.1413C>T (p.Ile471=) rs754631155
NM_020247.5(COQ8A):c.1440C>G (p.Phe480Leu) rs12593
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) 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.1464C>T (p.Asp488=)
NM_020247.5(COQ8A):c.1478A>G (p.Asn493Ser)
NM_020247.5(COQ8A):c.1506+13G>A rs2148134948
NM_020247.5(COQ8A):c.1506+15G>T
NM_020247.5(COQ8A):c.1506+16G>A
NM_020247.5(COQ8A):c.1506+17G>A
NM_020247.5(COQ8A):c.1506+19dup rs1659963977
NM_020247.5(COQ8A):c.1506+1G>A rs974677376
NM_020247.5(COQ8A):c.1507-16G>A
NM_020247.5(COQ8A):c.1507-17G>A
NM_020247.5(COQ8A):c.1507-19C>G rs1659980760
NM_020247.5(COQ8A):c.1507-20C>T
NM_020247.5(COQ8A):c.1507-20_1507-18del
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.1527G>A (p.Gly509=)
NM_020247.5(COQ8A):c.1534C>T (p.Arg512Trp)
NM_020247.5(COQ8A):c.1539A>C (p.Glu513Asp)
NM_020247.5(COQ8A):c.1557C>T (p.Thr519=)
NM_020247.5(COQ8A):c.1558G>A (p.Asp520Asn)
NM_020247.5(COQ8A):c.1560C>T (p.Asp520=)
NM_020247.5(COQ8A):c.156C>T (p.Gly52=)
NM_020247.5(COQ8A):c.1570C>G (p.Gln524Glu)
NM_020247.5(COQ8A):c.1572+16C>G rs765668839
NM_020247.5(COQ8A):c.1572+19T>A
NM_020247.5(COQ8A):c.1572+6T>A
NM_020247.5(COQ8A):c.1573-11C>T rs1660017967
NM_020247.5(COQ8A):c.1573-20_1573-19delinsGT
NM_020247.5(COQ8A):c.1573-3C>G
NM_020247.5(COQ8A):c.1590C>T (p.Ala530=)
NM_020247.5(COQ8A):c.1593CAGGGA[1] (p.531DR[1]) rs1660021291
NM_020247.5(COQ8A):c.1596G>A (p.Arg532=)
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.1617G>A (p.Ala539=)
NM_020247.5(COQ8A):c.1620A>G (p.Lys540=)
NM_020247.5(COQ8A):c.1629G>T (p.Glu543Asp) rs1282252939
NM_020247.5(COQ8A):c.1632dup (p.Lys545fs)
NM_020247.5(COQ8A):c.1650C>T (p.Tyr550=) rs750640337
NM_020247.5(COQ8A):c.1659+15G>A
NM_020247.5(COQ8A):c.1659+19del
NM_020247.5(COQ8A):c.1660-19C>T
NM_020247.5(COQ8A):c.1660-8T>C
NM_020247.5(COQ8A):c.1671C>T (p.Asp557=) rs370899166
NM_020247.5(COQ8A):c.1672G>A (p.Ala558Thr)
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.1681dup (p.Asp561fs)
NM_020247.5(COQ8A):c.1689C>A (p.Ile563=)
NM_020247.5(COQ8A):c.169A>G (p.Lys57Glu)
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=) rs886046069
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.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.1753G>A (p.Glu585Lys) rs758986425
NM_020247.5(COQ8A):c.1755G>A (p.Glu585=)
NM_020247.5(COQ8A):c.177+12T>C
NM_020247.5(COQ8A):c.177+6G>T
NM_020247.5(COQ8A):c.178-17G>A rs751333921
NM_020247.5(COQ8A):c.178-17G>T rs751333921
NM_020247.5(COQ8A):c.178-2A>G
NM_020247.5(COQ8A):c.1783C>G (p.Leu595Val)
NM_020247.5(COQ8A):c.1788G>A (p.Arg596=)
NM_020247.5(COQ8A):c.178G>A (p.Gly60Ser) rs369252071
NM_020247.5(COQ8A):c.1792C>T (p.Arg598Cys)
NM_020247.5(COQ8A):c.1792dup (p.Arg598fs)
NM_020247.5(COQ8A):c.1793G>A (p.Arg598His)
NM_020247.5(COQ8A):c.1798G>A (p.Val600Ile)
NM_020247.5(COQ8A):c.1800C>G (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1800C>T (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1805C>A (p.Pro602Gln) rs61995958
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) rs61995958
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020247.5(COQ8A):c.1806dup (p.Pro603fs)
NM_020247.5(COQ8A):c.1817C>A (p.Thr606Asn)
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020247.5(COQ8A):c.1827G>T (p.Leu609=) rs760526121
NM_020247.5(COQ8A):c.1830C>T (p.His610=)
NM_020247.5(COQ8A):c.1842_1844del (p.Gly615del)
NM_020247.5(COQ8A):c.1843G>A (p.Gly615Ser)
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.1879T>C (p.Phe627Leu)
NM_020247.5(COQ8A):c.1884C>T (p.Pro628=)
NM_020247.5(COQ8A):c.1895T>C (p.Met632Thr)
NM_020247.5(COQ8A):c.1900G>C (p.Glu634Gln)
NM_020247.5(COQ8A):c.1911C>T (p.Tyr637=)
NM_020247.5(COQ8A):c.1916A>G (p.Asn639Ser)
NM_020247.5(COQ8A):c.192T>C (p.His64=) rs1572045723
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys) rs555171534
NM_020247.5(COQ8A):c.219C>T (p.Gly73=)
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.250_253del (p.Pro84fs)
NM_020247.5(COQ8A):c.251C>T (p.Pro84Leu)
NM_020247.5(COQ8A):c.252G>A (p.Pro84=)
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.312C>A (p.Pro104=)
NM_020247.5(COQ8A):c.319C>G (p.Leu107Val)
NM_020247.5(COQ8A):c.322G>C (p.Gly108Arg)
NM_020247.5(COQ8A):c.330C>T (p.Ala110=)
NM_020247.5(COQ8A):c.355T>C (p.Tyr119His)
NM_020247.5(COQ8A):c.387G>C (p.Gly129=)
NM_020247.5(COQ8A):c.392C>T (p.Pro131Leu) rs2148062236
NM_020247.5(COQ8A):c.393C>T (p.Pro131=)
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.426C>T (p.Asn142=)
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.430A>C (p.Arg144=)
NM_020247.5(COQ8A):c.435C>T (p.Leu145=)
NM_020247.5(COQ8A):c.446C>T (p.Pro149Leu)
NM_020247.5(COQ8A):c.478C>T (p.Arg160Ter) rs756589820
NM_020247.5(COQ8A):c.515G>A (p.Gly172Asp)
NM_020247.5(COQ8A):c.519C>T (p.Leu173=)
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys) rs181579601
NM_020247.5(COQ8A):c.521C>T (p.Thr174Ile)
NM_020247.5(COQ8A):c.543C>A (p.Ala181=)
NM_020247.5(COQ8A):c.54G>T (p.Leu18=) rs2148051694
NM_020247.5(COQ8A):c.560G>A (p.Arg187His)
NM_020247.5(COQ8A):c.564C>G (p.Pro188=) rs140897240
NM_020247.5(COQ8A):c.56C>T (p.Thr19Ile)
NM_020247.5(COQ8A):c.57C>G (p.Thr19=) rs769650823
NM_020247.5(COQ8A):c.57C>T (p.Thr19=) rs769650823
NM_020247.5(COQ8A):c.588+14G>C
NM_020247.5(COQ8A):c.588+14_588+15delinsTT rs2148063237
NM_020247.5(COQ8A):c.588+19T>C rs1658505578
NM_020247.5(COQ8A):c.589-12G>A
NM_020247.5(COQ8A):c.599A>G (p.His200Arg)
NM_020247.5(COQ8A):c.611G>A (p.Arg204Gln)
NM_020247.5(COQ8A):c.62C>A (p.Ala21Glu)
NM_020247.5(COQ8A):c.637C>G (p.Arg213Gly) rs119468005
NM_020247.5(COQ8A):c.638_645del (p.Arg213fs) rs886042265
NM_020247.5(COQ8A):c.641T>G (p.Leu214Arg) rs371870568
NM_020247.5(COQ8A):c.645C>T (p.Ala215=)
NM_020247.5(COQ8A):c.650del (p.Phe217fs)
NM_020247.5(COQ8A):c.651C>T (p.Phe217=)
NM_020247.5(COQ8A):c.652G>A (p.Gly218Arg)
NM_020247.5(COQ8A):c.655+12G>T
NM_020247.5(COQ8A):c.655+17C>T
NM_020247.5(COQ8A):c.655+3A>C rs1553277145
NM_020247.5(COQ8A):c.656-10C>A
NM_020247.5(COQ8A):c.656-15C>T rs546978574
NM_020247.5(COQ8A):c.656-17C>A
NM_020247.5(COQ8A):c.656-18G>A
NM_020247.5(COQ8A):c.656-19C>T
NM_020247.5(COQ8A):c.656-1G>T rs903436781
NM_020247.5(COQ8A):c.656-6T>C
NM_020247.5(COQ8A):c.663C>T (p.Ala221=)
NM_020247.5(COQ8A):c.670C>G (p.Leu224Val)
NM_020247.5(COQ8A):c.678C>T (p.Phe226=)
NM_020247.5(COQ8A):c.679G>A (p.Gly227Arg)
NM_020247.5(COQ8A):c.68T>C (p.Val23Ala)
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.69G>A (p.Val23=)
NM_020247.5(COQ8A):c.706A>G (p.Ser236Gly)
NM_020247.5(COQ8A):c.712C>T (p.Arg238Cys)
NM_020247.5(COQ8A):c.714C>T (p.Arg238=)
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala) rs886046065
NM_020247.5(COQ8A):c.730+7C>G rs370924314
NM_020247.5(COQ8A):c.730+8G>A rs533407862
NM_020247.5(COQ8A):c.731-15C>T
NM_020247.5(COQ8A):c.731-5C>T
NM_020247.5(COQ8A):c.734A>G (p.Lys245Arg)
NM_020247.5(COQ8A):c.747G>A (p.Leu249=)
NM_020247.5(COQ8A):c.754A>G (p.Ser252Gly) rs2148124727
NM_020247.5(COQ8A):c.758C>T (p.Pro253Leu)
NM_020247.5(COQ8A):c.768C>G (p.Ser256=)
NM_020247.5(COQ8A):c.768C>T (p.Ser256=)
NM_020247.5(COQ8A):c.777T>A (p.Asn259Lys) rs778140760
NM_020247.5(COQ8A):c.780A>G (p.Ala260=)
NM_020247.5(COQ8A):c.790G>A (p.Val264Met)
NM_020247.5(COQ8A):c.792G>A (p.Val264=)
NM_020247.5(COQ8A):c.793C>T (p.Arg265Cys)
NM_020247.5(COQ8A):c.797C>T (p.Thr266Met)
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val) rs119468006
NM_020247.5(COQ8A):c.822A>T (p.Ala274=) rs778029819
NM_020247.5(COQ8A):c.828G>A (p.Lys276=)
NM_020247.5(COQ8A):c.853+11G>A
NM_020247.5(COQ8A):c.853+12C>T
NM_020247.5(COQ8A):c.853+15G>A
NM_020247.5(COQ8A):c.853+22_853+35dup
NM_020247.5(COQ8A):c.853+24_853+46dup
NM_020247.5(COQ8A):c.854-12_854-10del
NM_020247.5(COQ8A):c.854-17A>G
NM_020247.5(COQ8A):c.864T>C (p.Phe288=)
NM_020247.5(COQ8A):c.871C>T (p.Pro291Ser)
NM_020247.5(COQ8A):c.876C>G (p.His292Gln)
NM_020247.5(COQ8A):c.877C>A (p.Leu293Met)
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.901C>A (p.Arg301=)
NM_020247.5(COQ8A):c.902G>A (p.Arg301Gln)
NM_020247.5(COQ8A):c.910G>A (p.Ala304Thr)
NM_020247.5(COQ8A):c.919A>G (p.Met307Val)
NM_020247.5(COQ8A):c.924A>C (p.Pro308=)
NM_020247.5(COQ8A):c.925C>T (p.Leu309=)
NM_020247.5(COQ8A):c.939+16C>A
NM_020247.5(COQ8A):c.940-12C>T
NM_020247.5(COQ8A):c.940-18C>G
NM_020247.5(COQ8A):c.940-19C>T
NM_020247.5(COQ8A):c.940-3C>T
NM_020247.5(COQ8A):c.950A>G (p.Asn317Ser) rs759826134
NM_020247.5(COQ8A):c.955G>A (p.Asp319Asn)
NM_020247.5(COQ8A):c.96C>T (p.Ile32=)
NM_020247.5(COQ8A):c.972G>A (p.Trp324Ter) rs1350444582
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)
NM_020247.5(COQ8A):c.99A>C (p.Gly33=) rs2148051854

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.