ClinVar Miner

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

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Total variants: 87
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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.540A>G (p.Lys180=) rs200301242 0.00041
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.*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.671T>G (p.Ile224Ser) rs515726196 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.*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.-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
NM_015713.5(RRM2B):c.158G>A (p.Trp53Ter)
NM_015713.5(RRM2B):c.320T>C (p.Leu107Ser)
NM_015713.5(RRM2B):c.602C>T (p.Ser201Phe)
NM_015713.5(RRM2B):c.950del (p.Ser316_Leu317insTer) rs515726199
NM_015713.5(RRM2B):c.965dup (p.Asn322fs) rs515726201
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter) rs121918310

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