ClinVar Miner

List of variants reported as pathogenic for combined oxidative phosphorylation deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686 0.00028
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) rs200286768 0.00011
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs) rs772578397 0.00007
NM_020745.4(AARS2):c.2884C>T (p.Gln962Ter) rs1785274253
NM_024537.4(CARS2):c.1360dup (p.Ile454fs) rs1555342802

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