ClinVar Miner

List of variants in gene COQ8A reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
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.1716T>C (p.Ser572=) rs3738725 0.42035
NM_020247.5(COQ8A):c.*464G>A rs8159 0.31059
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
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.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.*790A>G rs12565212 0.00855
NM_020247.5(COQ8A):c.*349G>A rs113041399 0.00729
NM_020247.5(COQ8A):c.*727C>T rs16846762 0.00659
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.298G>T (p.Asp100Tyr) rs150696959 0.00153
NM_020247.5(COQ8A):c.*230G>A rs117808661 0.00143
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.*425G>T rs552968994 0.00085
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.1089C>T (p.Gly363=) rs139570869 0.00034
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094 0.00026
NM_020247.5(COQ8A):c.*612C>T rs747804729 0.00025
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_020247.5(COQ8A):c.*234G>A rs188462608 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.-75C>T rs886046064 0.00013
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403 0.00013
NM_020247.5(COQ8A):c.*110G>C rs1046215592 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.*570T>C rs778729725 0.00008
NM_020247.5(COQ8A):c.1395C>T (p.Asn465=) rs567318021 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.1236C>T (p.Ala412=) rs764541059 0.00004
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.*631C>G rs886046073 0.00003
NM_020247.5(COQ8A):c.116C>T (p.Ala39Val) rs773489358 0.00003
NM_020247.5(COQ8A):c.1450T>A (p.Phe484Ile) rs778967806 0.00003
NM_020247.5(COQ8A):c.*613G>A rs537646948 0.00002
NM_020247.5(COQ8A):c.1060G>A (p.Glu354Lys) rs886046066 0.00002
NM_020247.5(COQ8A):c.1257-9C>T rs200440257 0.00002
NM_020247.5(COQ8A):c.687G>A (p.Leu229=) rs752409331 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020247.5(COQ8A):c.*150C>T rs755137919 0.00001
NM_020247.5(COQ8A):c.*184G>C rs548257684 0.00001
NM_020247.5(COQ8A):c.*22C>T rs374941896 0.00001
NM_020247.5(COQ8A):c.1343T>C (p.Val448Ala) rs750053661 0.00001
NM_020247.5(COQ8A):c.1533G>A (p.Thr511=) rs201337210 0.00001
NM_020247.5(COQ8A):c.1659+14C>T rs1444332878 0.00001
NM_020247.5(COQ8A):c.1776C>T (p.Pro592=) rs7545723 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.358G>A (p.Val120Met) rs376347405 0.00001
NM_020247.5(COQ8A):c.854A>C (p.Asp285Ala) rs760349295 0.00001
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.5(COQ8A):c.*252A>C rs886046070
NM_020247.5(COQ8A):c.*326C>G rs886046071
NM_020247.5(COQ8A):c.*389dup rs11420839
NM_020247.5(COQ8A):c.*401A>G rs1660167809
NM_020247.5(COQ8A):c.*497C>T rs1660172039
NM_020247.5(COQ8A):c.*693G>T rs886046074
NM_020247.5(COQ8A):c.*759T>C rs1017095829
NM_020247.5(COQ8A):c.*761G>A rs145779574
NM_020247.5(COQ8A):c.1163-10C>T rs886046067
NM_020247.5(COQ8A):c.1256+11C>G rs564593360
NM_020247.5(COQ8A):c.1398+12C>A rs774158999
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.1679T>C (p.Leu560Ser) rs886046068
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=) rs886046069
NM_020247.5(COQ8A):c.1800C>T (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys) rs555171534
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys) rs181579601
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala) rs886046065

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