ClinVar Miner

List of variants reported as uncertain significance for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 by Illumina Laboratory Services, Illumina

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_015713.5(RRM2B):c.*1510T>C rs577176343 0.00062
NM_015713.5(RRM2B):c.*869G>T rs771055735 0.00039
NM_015713.5(RRM2B):c.*3266G>T rs746260787 0.00026
NM_015713.5(RRM2B):c.*2410C>A rs767476703 0.00011
NM_015713.5(RRM2B):c.*2722A>G rs543127762 0.00011
NM_015713.5(RRM2B):c.*2978A>G rs761021253 0.00010
NM_015713.5(RRM2B):c.*3118T>G rs1010967137 0.00010
NM_015713.5(RRM2B):c.*328G>A rs142449540 0.00010
NM_015713.5(RRM2B):c.*552G>A rs375924434 0.00009
NM_015713.5(RRM2B):c.*2885A>G rs29000291 0.00002
NM_015713.5(RRM2B):c.*788T>C rs559700946 0.00002
NM_015713.5(RRM2B):c.*1522A>G rs889321989 0.00001
NM_015713.5(RRM2B):c.*1664T>A rs1810545907 0.00001
NM_015713.5(RRM2B):c.*2960G>A rs886062561 0.00001
NM_015713.5(RRM2B):c.*3125T>C rs886062560 0.00001
NM_015713.5(RRM2B):c.*3289A>G rs569359604 0.00001
NM_015713.5(RRM2B):c.-1G>C rs1437655477 0.00001
NM_015713.5(RRM2B):c.162A>G (p.Lys54=) rs746927643 0.00001
NM_015713.5(RRM2B):c.503A>G (p.Lys168Arg) rs886062571 0.00001
NM_015713.4(RRM2B):c.-193G>C rs1325086159
NM_015713.5(RRM2B):c.*1337G>C rs962002084
NM_015713.5(RRM2B):c.*1451A>C rs11575864
NM_015713.5(RRM2B):c.*1552T>C rs1051017101
NM_015713.5(RRM2B):c.*1717T>A rs886062566
NM_015713.5(RRM2B):c.*247G>A rs886062568
NM_015713.5(RRM2B):c.*2513T>C rs866323859
NM_015713.5(RRM2B):c.*2728G>A rs1810526776
NM_015713.5(RRM2B):c.*2809G>A rs886062562
NM_015713.5(RRM2B):c.*2991C>T rs972415772
NM_015713.5(RRM2B):c.*2995A>T rs1810522232
NM_015713.5(RRM2B):c.*3250G>C rs1279038036
NM_015713.5(RRM2B):c.*3473A>G rs1810512728
NM_015713.5(RRM2B):c.*3577G>T rs779768316
NM_015713.5(RRM2B):c.*436A>G rs1810567744
NM_015713.5(RRM2B):c.*485A>C rs531379490
NM_015713.5(RRM2B):c.*73A>T rs886062570
NM_015713.5(RRM2B):c.*855C>G rs886062567
NM_015713.5(RRM2B):c.*895G>A rs1810559850

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