ClinVar Miner

List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015713.5(RRM2B):c.*732A>G rs16869269 0.11676
NM_015713.5(RRM2B):c.*866T>G rs29000286 0.11598
NM_015713.5(RRM2B):c.*1673T>G rs16918482 0.11578
NM_015713.5(RRM2B):c.*1488G>C rs1265116 0.10011
NM_015713.4(RRM2B):c.-88C>A rs72554091 0.07833
NM_015713.5(RRM2B):c.*998A>G rs3907099 0.06791
NM_015713.5(RRM2B):c.*3593G>A rs29000294 0.06703
NM_015713.5(RRM2B):c.*1277A>T rs5005121 0.06698
NM_015713.5(RRM2B):c.*2666T>C rs3735721 0.06688
NM_015713.5(RRM2B):c.*3527G>A rs1052071 0.05633
NM_015713.5(RRM2B):c.*3463C>T rs1052069 0.05623
NM_015713.5(RRM2B):c.*1121T>C rs4102401 0.04883
NM_015713.5(RRM2B):c.*3395C>G rs11575866 0.04883
NM_015713.5(RRM2B):c.*2879A>G rs3204695 0.04874
NM_015713.5(RRM2B):c.*2097T>A rs116394626 0.03190
NM_015713.5(RRM2B):c.*2035A>G rs1055958 0.03186
NM_015713.5(RRM2B):c.207C>T (p.Val69=) rs28999710 0.02727
NM_015713.4(RRM2B):c.-153G>T rs2290707 0.02697
NM_015713.4(RRM2B):c.-103G>A rs7844478 0.02404
NM_015713.5(RRM2B):c.*1953A>G rs11987823 0.01309
NM_015713.5(RRM2B):c.*2136G>A rs139212686 0.01300
NM_015713.5(RRM2B):c.*3555T>C rs29000293 0.01078
NM_015713.5(RRM2B):c.*190T>C rs60624814 0.00487
NM_015713.5(RRM2B):c.*1351T>C rs114108597 0.00478
NM_015713.5(RRM2B):c.*3078G>T rs113860402 0.00168
NM_015713.5(RRM2B):c.*817G>A rs190474682 0.00166
NM_015713.5(RRM2B):c.*11G>A rs29000285 0.00109
NM_015713.5(RRM2B):c.*1596T>C rs182874090 0.00086
NM_015713.5(RRM2B):c.*1510T>C rs577176343 0.00062
NM_015713.5(RRM2B):c.*2822A>T rs189278573 0.00051
NM_015713.5(RRM2B):c.*1601A>G rs140164634 0.00048
NM_015713.5(RRM2B):c.*2236A>T rs566194929 0.00044
NM_015713.5(RRM2B):c.*869G>T rs771055735 0.00042
NM_015713.5(RRM2B):c.540A>G (p.Lys180=) rs200301242 0.00041
NM_015713.5(RRM2B):c.*3266G>T rs746260787 0.00026
NM_015713.5(RRM2B):c.*1867C>T rs572149875 0.00018
NM_015713.5(RRM2B):c.790-8C>A rs376542259 0.00014
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.790-9T>C rs573435546 0.00009
NM_015713.5(RRM2B):c.756G>A (p.Arg252=) rs377736828 0.00006
NM_015713.5(RRM2B):c.544A>G (p.Thr182Ala) rs147315735 0.00005
NM_015713.5(RRM2B):c.*2960G>A rs886062561 0.00003
NM_015713.5(RRM2B):c.913G>T (p.Ala305Ser) rs201440849 0.00003
NM_015713.5(RRM2B):c.*2885A>G rs29000291 0.00002
NM_015713.5(RRM2B):c.*788T>C rs559700946 0.00002
NM_015713.4(RRM2B):c.-101G>A rs374844049 0.00001
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.*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.-157G>A rs28927991
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.*2675A>G rs3735720
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.*3489A>G rs540839717
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.