ClinVar Miner

List of variants in gene UQCRQ reported as uncertain significance for inborn mitochondrial metabolism disorder

Included ClinVar conditions (412):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_014402.5(UQCRQ):c.*1193A>G rs254284 0.43130
NM_014402.5(UQCRQ):c.*882G>T rs144955309 0.00562
NM_014402.5(UQCRQ):c.*658A>C rs188040859 0.00545
NM_014402.5(UQCRQ):c.*1078T>A rs149048464 0.00302
NM_014402.5(UQCRQ):c.*1204G>A rs116236652 0.00215
NM_014402.5(UQCRQ):c.*332G>A rs182167836 0.00128
NM_014402.5(UQCRQ):c.*697G>C rs567252592 0.00068
NM_014402.5(UQCRQ):c.*102T>C rs141098349 0.00050
NM_014402.5(UQCRQ):c.*1177G>A rs868237609 0.00035
NM_014402.5(UQCRQ):c.*971C>A rs879668666 0.00035
NM_014402.5(UQCRQ):c.*1026C>G rs749663767 0.00016
NM_014402.5(UQCRQ):c.*18C>T rs768723651 0.00016
NM_014402.5(UQCRQ):c.*756C>T rs757790355 0.00013
NM_014402.5(UQCRQ):c.*342C>T rs766622698 0.00012
NM_014402.5(UQCRQ):c.*249A>G rs572786790 0.00011
NM_014402.5(UQCRQ):c.*364C>T rs186810817 0.00010
NM_014402.5(UQCRQ):c.*1239A>G rs999444674 0.00005
NM_014402.5(UQCRQ):c.*552C>T rs915287250 0.00004
NM_014402.5(UQCRQ):c.*1058A>G rs886059918 0.00003
NM_014402.5(UQCRQ):c.*803A>G rs1359401327 0.00003
NM_014402.5(UQCRQ):c.*19G>T rs774125650 0.00001
NM_014402.5(UQCRQ):c.*468G>A rs190017949 0.00001
NM_014402.5(UQCRQ):c.*545A>C rs886059917 0.00001
NM_014402.5(UQCRQ):c.*953A>T rs934184832 0.00001
NM_014402.5(UQCRQ):c.*1010C>G rs551228154
NM_014402.5(UQCRQ):c.*1086A>C rs886059919
NM_014402.5(UQCRQ):c.*1115G>C rs1759703810
NM_014402.5(UQCRQ):c.*1120A>C rs1759703978
NM_014402.5(UQCRQ):c.*236C>G rs116229809
NM_014402.5(UQCRQ):c.*236C>T rs116229809
NM_014402.5(UQCRQ):c.*359G>T rs1342308478
NM_014402.5(UQCRQ):c.*485G>A rs1759688069
NM_014402.5(UQCRQ):c.*622T>G rs182652065
NM_014402.5(UQCRQ):c.*970A>C rs185184076
NM_014402.5(UQCRQ):c.*970A>G rs185184076
NM_014402.5(UQCRQ):c.*979G>A rs536513933

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