ClinVar Miner

List of variants in gene MTO1 reported as pathogenic for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686 0.00028
NM_012123.4(MTO1):c.1324C>T (p.Arg442Ter) rs200583827 0.00007
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539 0.00004
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_012123.4(MTO1):c.1462C>T (p.Arg488Ter) rs771939280 0.00002
NM_012123.4(MTO1):c.1405C>T (p.Arg469Ter) rs764848745 0.00001
NM_012123.4(MTO1):c.1498C>T (p.Arg500Ter) rs372842922 0.00001
NC_000006.11:g.(?_74171578)_(74171814_?)del
NC_000006.11:g.(?_74171578)_(74192363_?)del
NC_000006.11:g.(?_74175912)_(74183397_?)del
NC_000006.11:g.(?_74183068)_(74183397_?)del
NC_000006.11:g.(?_74189435)_(74192363_?)del
NM_012123.4(MTO1):c.1136del (p.Gly379fs)
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
NM_012123.4(MTO1):c.1232C>T (p.Thr411Ile) rs398122419
NM_012123.4(MTO1):c.1246del (p.Glu416fs) rs1250411982
NM_012123.4(MTO1):c.1274del (p.Gly425fs)
NM_012123.4(MTO1):c.137dup (p.His46fs)
NM_012123.4(MTO1):c.1421dup (p.Leu474fs)
NM_012123.4(MTO1):c.1451G>A (p.Arg484Gln)
NM_012123.4(MTO1):c.1495C>T (p.Gln499Ter)
NM_012123.4(MTO1):c.1533_1536del (p.Glu512fs)
NM_012123.4(MTO1):c.1643dup (p.Asp549fs)
NM_012123.4(MTO1):c.1692del (p.Val565fs) rs2150042284
NM_012123.4(MTO1):c.1750dup (p.Ile584fs) rs2150042308
NM_012123.4(MTO1):c.1789C>T (p.Gln597Ter) rs2150044955
NM_012123.4(MTO1):c.1822del (p.Leu608fs) rs1561954433
NM_012123.4(MTO1):c.1848T>G (p.Tyr616Ter) rs2150044996
NM_012123.4(MTO1):c.1858dup (p.Arg620fs) rs397518449
NM_012123.4(MTO1):c.239_242del (p.Ser80fs)
NM_012123.4(MTO1):c.277del (p.Glu92_Val93insTer)
NM_012123.4(MTO1):c.402_403del (p.Tyr134_Lys135delinsTer) rs769532203
NM_012123.4(MTO1):c.413del (p.Met138fs)
NM_012123.4(MTO1):c.429_444del (p.Asn144fs) rs2150027394
NM_012123.4(MTO1):c.525_526del (p.Val176fs)
NM_012123.4(MTO1):c.648del (p.Gln216fs)
NM_012123.4(MTO1):c.667C>T (p.Gln223Ter) rs2150031480
NM_012123.4(MTO1):c.724del (p.Arg242fs)
NM_012123.4(MTO1):c.734_735del (p.Lys245fs) rs755954353
NM_012123.4(MTO1):c.937C>T (p.Arg313Ter)
NM_012123.4(MTO1):c.961A>T (p.Lys321Ter) rs148667065
NM_012123.4(MTO1):c.967_968del (p.Leu323fs) rs2150035785
NM_012123.4(MTO1):c.970del (p.Arg324fs)
NM_012123.4(MTO1):c.97del (p.Arg33fs) rs1582666067

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