ClinVar Miner

List of variants in gene COQ8A reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.730+260T>C rs1888826 0.89455
NM_020247.4(COQ8A):c.*815C>T rs10495274 0.53093
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_020247.5(COQ8A):c.854-81A>G rs2297412 0.45192
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_020247.5(COQ8A):c.1660-262T>A rs17592479 0.41691
NC_000001.11:g.226987666G>T rs6426558 0.40938
NM_020247.5(COQ8A):c.1573-52G>A rs2297415 0.38619
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.38143
NM_020247.5(COQ8A):c.656-53G>A rs3806263 0.25177
NM_020247.5(COQ8A):c.1398+22G>C rs7530213 0.24477
NM_020247.5(COQ8A):c.1507-59C>T rs1317490 0.19845
NM_020247.5(COQ8A):c.1660-32C>G rs41303131 0.19708
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_020247.5(COQ8A):c.178-309C>T rs12133428 0.13267
NM_020247.5(COQ8A):c.1081-43G>A rs12739480 0.10291
NM_020247.5(COQ8A):c.*681G>A rs10482 0.06118
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_020247.5(COQ8A):c.655+258T>C rs75286417 0.04148
NM_020247.5(COQ8A):c.1660-99T>C rs75146933 0.02200
NM_020247.5(COQ8A):c.730+281T>C rs116517333 0.02194
NM_020247.5(COQ8A):c.1163-50T>A rs6690459 0.01981
NM_020247.5(COQ8A):c.854-82C>T rs72760489 0.01393
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.*133G>A rs149820067 0.01173
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_020247.5(COQ8A):c.854-28C>T rs145767302 0.01097
NM_020247.5(COQ8A):c.589-130G>A rs116410904 0.00966
NM_020247.5(COQ8A):c.1660-268A>G rs79118974 0.00899
NM_020247.5(COQ8A):c.*790A>G rs12565212 0.00855
NM_020247.5(COQ8A):c.655+215G>A rs75936420 0.00780
NM_020247.5(COQ8A):c.1660-212G>A rs114075249 0.00664
NM_020247.5(COQ8A):c.*727C>T rs16846762 0.00659
NM_020247.5(COQ8A):c.731-255G>A rs115795260 0.00659
NM_020247.5(COQ8A):c.655+9G>A rs146526153 0.00658
NM_020247.5(COQ8A):c.853+199G>C rs115291753 0.00658
NM_020247.5(COQ8A):c.178-99G>A rs145473658 0.00656
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228 0.00567
NM_020247.5(COQ8A):c.730+209C>T rs112822132 0.00530
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_020247.5(COQ8A):c.1163-54G>T rs531785041 0.00483
NM_020247.5(COQ8A):c.731-27G>A rs200907185 0.00351
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.1824C>T (p.Ser608=) rs141270350 0.00152
NM_020247.5(COQ8A):c.*9G>A rs200743857 0.00142
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893 0.00141
NM_020247.5(COQ8A):c.656-36C>T rs76592783 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.240C>T (p.His80=) rs113667144 0.00068
NM_020247.5(COQ8A):c.67G>A (p.Val23Met) rs35582308 0.00058
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.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.1665G>A (p.Met555Ile) rs199874519 0.00016
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.891C>T (p.Phe297=) rs55968053 0.00013
NM_020247.5(COQ8A):c.1011C>T (p.Ala337=) rs36006006 0.00011
NM_020247.5(COQ8A):c.1752C>T (p.Thr584=) rs201865243 0.00011
NM_020247.5(COQ8A):c.1257-20G>C rs752645843 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.789C>T (p.Ile263=) rs375123701 0.00007
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020247.5(COQ8A):c.1198C>T (p.Arg400Trp) rs541836846 0.00006
NM_020247.5(COQ8A):c.1399-14C>T rs148742677 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.1407C>T (p.Tyr469=) rs773258464 0.00005
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met) rs578189699 0.00005
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=) rs774789966 0.00005
NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter) rs753254213 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg) rs759470563 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_020247.5(COQ8A):c.1047G>A (p.Met349Ile) rs1473665143 0.00002
NM_020247.5(COQ8A):c.1313G>A (p.Cys438Tyr) rs1659914808 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.731-9C>T rs367603340 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020247.5(COQ8A):c.1090G>A (p.Val364Met) rs371269974 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.1399-12C>T rs377529632 0.00001
NM_020247.5(COQ8A):c.1613G>A (p.Arg538Gln) rs768524626 0.00001
NM_020247.5(COQ8A):c.1702G>T (p.Glu568Ter) rs376478331 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.1919_*1del (p.Tyr640_Ter648delinsXaa) rs763379245 0.00001
NM_020247.5(COQ8A):c.445C>T (p.Pro149Ser) rs863223882 0.00001
NM_020247.5(COQ8A):c.497A>G (p.Asp166Gly) rs863223883 0.00001
NM_020247.5(COQ8A):c.526G>A (p.Glu176Lys) rs776354118 0.00001
NM_020247.5(COQ8A):c.957C>T (p.Asp319=) rs764147237 0.00001
NC_000001.11:g.226987594T>A rs78251168
NC_000001.11:g.226987594T>G rs78251168
NC_000001.11:g.226987720C>T rs7549043
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.5(COQ8A):c.*761G>A rs145779574
NM_020247.5(COQ8A):c.1020C>A (p.Ser340=) rs181558991
NM_020247.5(COQ8A):c.1028A>G (p.Gln343Arg) rs863223884
NM_020247.5(COQ8A):c.1080+33T>C rs2256060
NM_020247.5(COQ8A):c.1108A>G (p.Ser370Gly)
NM_020247.5(COQ8A):c.1110T>C (p.Ser370=) rs1179877249
NM_020247.5(COQ8A):c.1162+7G>C rs1024405380
NM_020247.5(COQ8A):c.1191G>A (p.Val397=) rs751845468
NM_020247.5(COQ8A):c.1252T>C (p.Phe418Leu) rs2148131420
NM_020247.5(COQ8A):c.1256+11C>T rs564593360
NM_020247.5(COQ8A):c.1256+32del rs3215919
NM_020247.5(COQ8A):c.1257-56G>C rs1574185
NM_020247.5(COQ8A):c.1257-56G>T rs1574185
NM_020247.5(COQ8A):c.1257-57G>T rs377335668
NM_020247.5(COQ8A):c.1257-58G>T rs1574184
NM_020247.5(COQ8A):c.1257-59_1257-58insT rs149374145
NM_020247.5(COQ8A):c.1276C>A (p.Pro426Thr)
NM_020247.5(COQ8A):c.127_128delinsA (p.Leu43fs) rs2148051981
NM_020247.5(COQ8A):c.1317C>T (p.Ser439=) rs1553280571
NM_020247.5(COQ8A):c.1393A>C (p.Asn465His) rs863223887
NM_020247.5(COQ8A):c.1398+3_1398+6del rs863223886
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.1470C>A (p.Asn490Lys)
NM_020247.5(COQ8A):c.1505_1506+21del rs760327691
NM_020247.5(COQ8A):c.1534C>T (p.Arg512Trp)
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs) rs751637699
NM_020247.5(COQ8A):c.1671C>T (p.Asp557=) 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.1747ACC[1] (p.Thr584del) rs387906299
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.1815_1816delinsC (p.Glu605fs) rs1085307497
NM_020247.5(COQ8A):c.1833G>A (p.Arg611=) rs753431843
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.1942T>C (p.Ter648Gln) rs766591347
NM_020247.5(COQ8A):c.308C>T (p.Ala103Val)
NM_020247.5(COQ8A):c.337G>T (p.Glu113Ter) rs765966679
NM_020247.5(COQ8A):c.397C>T (p.Gln133Ter) rs1553276966
NM_020247.5(COQ8A):c.500_521delinsTTG (p.Gln167fs) rs606231139
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.731-161T>C rs143481309
NM_020247.5(COQ8A):c.758C>T (p.Pro253Leu)
NM_020247.5(COQ8A):c.830T>C (p.Leu277Pro) rs781518112
NM_020247.5(COQ8A):c.832G>C (p.Gly278Arg)
NM_020247.5(COQ8A):c.853+156G>A rs76213739
NM_020247.5(COQ8A):c.853+47G>A rs116286528
NM_020247.5(COQ8A):c.87C>G (p.His29Gln)
NM_020247.5(COQ8A):c.892G>C (p.Glu298Gln) rs756432144
NM_020247.5(COQ8A):c.913G>A (p.Asp305Asn)
NM_020247.5(COQ8A):c.940-52C>G rs2297413
NM_020247.5(COQ8A):c.942A>G (p.Lys314=) rs773910863
NM_020247.5(COQ8A):c.97G>A (p.Gly33Arg) rs552784842

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