ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive ataxia due to ubiquinone deficiency

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Total variants: 79
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HGVS dbSNP gnomAD frequency
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.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.*612C>T rs747804729 0.00033
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.*234G>A rs188462608 0.00022
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.1644C>T (p.Thr548=) rs141423403 0.00013
NM_020247.5(COQ8A):c.-113A>G rs886046063 0.00012
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.-75C>T rs886046064 0.00009
NM_020247.5(COQ8A):c.*570T>C rs778729725 0.00008
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg) rs759470563 0.00007
NM_020247.5(COQ8A):c.263G>T (p.Gly88Val) rs141687205 0.00006
NM_020247.5(COQ8A):c.664G>A (p.Val222Met) rs372435075 0.00006
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.785G>A (p.Arg262Gln) rs145422777 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.1247G>A (p.Arg416His) rs767899984 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.1047G>A (p.Met349Ile) rs1473665143 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.853+10C>T rs367945973 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.1049A>G (p.Lys350Arg) rs548317868 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_020247.5(COQ8A):c.*252A>C rs886046070
NM_020247.5(COQ8A):c.*326C>G rs886046071
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.1014del (p.Ala339fs)
NM_020247.5(COQ8A):c.1054G>T (p.Gly352Cys) rs536852535
NM_020247.5(COQ8A):c.1163-10C>T rs886046067
NM_020247.5(COQ8A):c.1256+11C>G rs564593360
NM_020247.5(COQ8A):c.1285T>C (p.Tyr429His) rs2148132744
NM_020247.5(COQ8A):c.1398+12C>A rs774158999
NM_020247.5(COQ8A):c.1471T>A (p.Trp491Arg) rs1278938202
NM_020247.5(COQ8A):c.1593CAGGGA[1] (p.531DR[1]) rs1660021291
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.1805C>G (p.Pro602Arg) rs61995958
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup) rs1558212011
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys) rs555171534
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser) rs778948697
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.578A>G (p.His193Arg)
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala) rs886046065
NM_020247.5(COQ8A):c.844A>G (p.Ser282Gly) rs1659738579

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