ClinVar Miner

List of variants reported as pathogenic for combined oxidative phosphorylation deficiency by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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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_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 0.00025
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_018127.7(ELAC2):c.2009del (p.Cys670fs) rs761385155 0.00006
NM_024678.6(NARS2):c.418C>T (p.Arg140Ter) rs1057524183 0.00006
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_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566 0.00001
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 0.00001
NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter) rs587777591 0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter) rs863224032 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_213649.2(SFXN4):c.414+1G>A rs1380193482 0.00001
GRCh37/hg19 12q24.31(chr12:123738222-123738503)
GRCh37/hg19 6p25.1(chr6:5545413-5545573)
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
NM_020745.4(AARS2):c.2356G>A (p.Ala786Thr) rs1554147776
NM_032620.4(GTPBP3):c.643G>T (p.Glu215Ter) rs1555726849
NM_139242.4(MTFMT):c.91C>T (p.Arg31Ter) rs1555404423
NM_213649.2(SFXN4):c.471+1G>A rs367932369

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