ClinVar Miner

List of variants in gene COQ8A reported by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
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.*9G>A rs200743857 0.00142
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.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.1089C>T (p.Gly363=) rs139570869 0.00034
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.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.1644C>T (p.Thr548=) rs141423403 0.00013
NM_020247.5(COQ8A):c.1011C>T (p.Ala337=) rs36006006 0.00011
NM_020247.5(COQ8A):c.1698G>A (p.Leu566=) rs543820987 0.00011
NM_020247.5(COQ8A):c.525C>T (p.Ala175=) rs201787750 0.00011
NM_020247.5(COQ8A):c.1014C>T (p.Ala338=) rs374358866 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.1612C>T (p.Arg538Trp) rs201331131 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.741C>T (p.Ala247=) rs554280397 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.1395C>T (p.Asn465=) rs567318021 0.00005
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727 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.1132G>A (p.Val378Met) rs375821684 0.00003
NM_020247.5(COQ8A):c.1247G>A (p.Arg416His) rs767899984 0.00003
NM_020247.5(COQ8A):c.50A>G (p.Lys17Arg) rs150221608 0.00003
NM_020247.5(COQ8A):c.771G>A (p.Glu257=) rs371867831 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
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.1812G>A (p.Glu604=) rs887556564 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.1049A>G (p.Lys350Arg) rs548317868 0.00001
NM_020247.5(COQ8A):c.13T>C (p.Leu5=) rs564251019 0.00001
NM_020247.5(COQ8A):c.1605G>C (p.Glu535Asp) rs201158713 0.00001
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp) rs765235707 0.00001
NM_020247.5(COQ8A):c.1773T>C (p.Ile591=) rs369502091 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.784C>T (p.Arg262Trp) rs776595690 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.973C>T (p.Arg325Trp) rs565573577 0.00001
NM_020247.5(COQ8A):c.1008C>G (p.Phe336Leu)
NM_020247.5(COQ8A):c.1012G>A (p.Ala338Thr)
NM_020247.5(COQ8A):c.1163-2A>G rs1572081759
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.1257-6A>C
NM_020247.5(COQ8A):c.1390C>T (p.Arg464Trp)
NM_020247.5(COQ8A):c.1452C>G (p.Phe484Leu)
NM_020247.5(COQ8A):c.148del (p.Gln50fs) rs1553276474
NM_020247.5(COQ8A):c.150G>T (p.Gln50His) rs2148052080
NM_020247.5(COQ8A):c.1643C>T (p.Thr548Ile) rs769162966
NM_020247.5(COQ8A):c.1660-1G>A rs1395498196
NM_020247.5(COQ8A):c.1670A>G (p.Asp557Gly)
NM_020247.5(COQ8A):c.1676A>C (p.His559Pro) rs902464326
NM_020247.5(COQ8A):c.1715C>T (p.Ser572Phe) rs1572089312
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.1805C>T (p.Pro602Leu) rs61995958
NM_020247.5(COQ8A):c.1813G>A (p.Glu605Lys) rs1572089727
NM_020247.5(COQ8A):c.1830C>T (p.His610=)
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.1883C>G (p.Pro628Arg) rs553105858
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys) rs555171534
NM_020247.5(COQ8A):c.341G>A (p.Gly114Asp)
NM_020247.5(COQ8A):c.401C>T (p.Ala134Val) rs1553276975
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.521C>T (p.Thr174Ile)
NM_020247.5(COQ8A):c.578A>G (p.His193Arg)
NM_020247.5(COQ8A):c.588+3_588+6del rs1396595082
NM_020247.5(COQ8A):c.595G>A (p.Glu199Lys)
NM_020247.5(COQ8A):c.638_645del (p.Arg213fs) rs886042265
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.712C>T (p.Arg238Cys)
NM_020247.5(COQ8A):c.921G>A (p.Met307Ile) rs2148126881
NM_020247.5(COQ8A):c.949AAC[1] (p.Asn318del) rs759061098

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