ClinVar Miner

List of variants reported as pathogenic for combined oxidative phosphorylation deficiency by Invitae

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686 0.00028
NM_006567.5(FARS2):c.407C>A (p.Pro136His) rs199863563 0.00022
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_006567.5(FARS2):c.792del (p.Asp265fs) rs761097220 0.00011
NM_012123.4(MTO1):c.1324C>T (p.Arg442Ter) rs200583827 0.00007
NM_006567.5(FARS2):c.467C>T (p.Thr156Met) rs146988468 0.00006
NM_018127.7(ELAC2):c.2009del (p.Cys670fs) rs761385155 0.00006
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs) rs863223926 0.00006
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter) rs148620369 0.00005
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_006567.5(FARS2):c.1156C>T (p.Arg386Ter) rs770597592 0.00001
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys) rs775690041 0.00001
NM_006567.5(FARS2):c.1256G>A (p.Arg419His) rs202183509 0.00001
NM_006567.5(FARS2):c.261G>A (p.Trp87Ter) rs1229314240 0.00001
NM_006567.5(FARS2):c.646C>T (p.Gln216Ter) rs1057523346 0.00001
NM_006567.5(FARS2):c.812del (p.Thr271fs) rs1429774361 0.00001
NM_012123.4(MTO1):c.1405C>T (p.Arg469Ter) rs764848745 0.00001
NM_012123.4(MTO1):c.1498C>T (p.Arg500Ter) rs372842922 0.00001
NM_018127.7(ELAC2):c.1275C>A (p.Tyr425Ter) rs1308121771 0.00001
NM_018127.7(ELAC2):c.1435C>T (p.Gln479Ter) rs138114191 0.00001
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter) rs550032922 0.00001
NM_018127.7(ELAC2):c.1888C>T (p.Arg630Ter) rs781680309 0.00001
NM_018127.7(ELAC2):c.245+2T>A rs748684065 0.00001
NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter) rs767879725 0.00001
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter) rs397514539 0.00001
NC_000006.11:g.(?_5109657)_(6320826_?)del
NC_000006.11:g.(?_5216831)_(5431425_?)del
NC_000006.11:g.(?_5260861)_(5369435_?)del
NC_000006.11:g.(?_5339261)_(5404834_?)del
NC_000006.11:g.(?_5368784)_(5545593_?)del
NC_000006.11:g.(?_5368804)_(5369425_?)del
NC_000006.11:g.(?_5368804)_(5369435_?)del
NC_000006.11:g.(?_5368804)_(5404954_?)del
NC_000006.11:g.(?_5404755)_(5431425_?)del
NC_000006.11:g.(?_5404755)_(5545593_?)del
NC_000006.11:g.(?_5431254)_(5653711_?)del
NC_000006.11:g.(?_5545403)_(5545583_?)del
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
NC_000006.12:g.(?_5368551)_(5369202_?)del
NC_000006.12:g.(?_5368551)_(5431192_?)del
NC_000006.12:g.(?_5404522)_(5404721_?)del
NC_000006.12:g.(?_5545160)_(5545360_?)del
NC_000012.11:g.(?_123741340)_(123741578_?)del
NC_000017.10:g.(?_12896135)_(12921264_?)del
NC_000017.10:g.(?_12920159)_(12920458_?)del
NM_006567.5(FARS2):c.1109_1111delinsAACCAGAATGAA (p.Trp370_Leu371delinsTer) rs1554116357
NM_006567.5(FARS2):c.1110G>A (p.Trp370Ter)
NM_006567.5(FARS2):c.11C>G (p.Ser4Ter)
NM_006567.5(FARS2):c.1218-73_1289delinsC
NM_006567.5(FARS2):c.178C>T (p.Gln60Ter)
NM_006567.5(FARS2):c.298C>T (p.Gln100Ter) rs1428625375
NM_006567.5(FARS2):c.3G>T (p.Met1Ile) rs2127642660
NM_006567.5(FARS2):c.425del (p.Asp142fs) rs2127643855
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006567.5(FARS2):c.497dup (p.Leu168fs)
NM_006567.5(FARS2):c.694del (p.Thr232fs) rs2127718679
NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter) rs761709212
NM_006567.5(FARS2):c.877del (p.Gly292_Val293insTer) rs2127767975
NM_006567.5(FARS2):c.886C>T (p.Gln296Ter) rs1414534588
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006567.5(FARS2):c.929G>A (p.Trp310Ter)
NM_006567.5(FARS2):c.946_950del (p.Leu316fs) rs1322974029
NM_006567.5(FARS2):c.999G>A (p.Trp333Ter) rs753467517
NM_012123.4(MTO1):c.1136del (p.Gly379fs)
NM_012123.4(MTO1):c.1246del (p.Glu416fs) rs1250411982
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.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_018127.7(ELAC2):c.1062C>G (p.Tyr354Ter)
NM_018127.7(ELAC2):c.1066C>T (p.Gln356Ter)
NM_018127.7(ELAC2):c.1214del (p.Cys405fs)
NM_018127.7(ELAC2):c.1245del (p.Met416fs)
NM_018127.7(ELAC2):c.1535dup (p.Leu513fs)
NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter) rs2040486497
NM_018127.7(ELAC2):c.1706del (p.Leu569fs) rs2143562536
NM_018127.7(ELAC2):c.1727dup (p.Leu576fs)
NM_018127.7(ELAC2):c.1864G>T (p.Glu622Ter)
NM_018127.7(ELAC2):c.2144del (p.Met715fs)
NM_018127.7(ELAC2):c.2179C>T (p.Gln727Ter) rs946948334
NM_018127.7(ELAC2):c.273del (p.Gln92fs) rs748788377
NM_018127.7(ELAC2):c.286C>T (p.Gln96Ter)
NM_018127.7(ELAC2):c.297-2_297-1delinsT rs1060502161
NM_018127.7(ELAC2):c.299dup (p.Leu100fs)
NM_018127.7(ELAC2):c.383T>A (p.Leu128Ter)
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu) rs397515465
NM_018127.7(ELAC2):c.520G>T (p.Glu174Ter) rs374954001
NM_018127.7(ELAC2):c.766del (p.Val256fs) rs2041085400
NM_018127.7(ELAC2):c.863_866del (p.Gly288fs)
NM_018127.7(ELAC2):c.865_866AG[2] (p.Glu290fs)
NM_152269.5(MTRFR):c.135_142dup (p.Asp48fs)
NM_152269.5(MTRFR):c.193_194insCGAAAGCAGTTTG (p.Val65fs)
NM_152269.5(MTRFR):c.307del (p.Gln103fs) rs2048187051
NM_152269.5(MTRFR):c.33dup (p.Pro12fs) rs2048143498
NM_152269.5(MTRFR):c.409A>T (p.Lys137Ter) rs2138800520

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