ClinVar Miner

List of variants reported as likely 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: 20
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.1534G>C (p.Asp512His) rs146512155 0.00073
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) rs139515727 0.00011
NM_024678.6(NARS2):c.749G>A (p.Arg250Gln) rs150879145 0.00003
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847 0.00002
NM_012123.4(MTO1):c.1261-5T>G rs1275100093 0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032 0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_032620.4(GTPBP3):c.440C>T (p.Ala147Val) rs774708853 0.00001
NM_003321.5(TUFM):c.989G>C (p.Arg330Pro) rs924099073
NM_006567.5(FARS2):c.1163T>G (p.Ile388Ser) rs1407198979
NM_006567.5(FARS2):c.192C>G (p.Ser64Arg) rs1554169280
NM_012123.4(MTO1):c.1429C>T (p.Arg477Cys) rs1033653237
NM_012123.4(MTO1):c.963A>C (p.Lys321Asn) rs1554148965
NM_018127.7(ELAC2):c.1028T>G (p.Met343Arg) rs1555575927
NM_018127.7(ELAC2):c.929A>C (p.Glu310Ala) rs1555576642
NM_020442.6(VARS2):c.1400G>C (p.Arg467Pro) rs775439829
NM_020442.6(VARS2):c.1463_1465del (p.Gly488del) rs1554268077
NM_020745.4(AARS2):c.2531T>C (p.Leu844Pro) rs1170907347
NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro) rs770871640
NM_032620.4(GTPBP3):c.517C>T (p.Arg173Trp) rs1274363168

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