ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Division of Human Genetics, Children's Hospital of Philadelphia

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys) rs146924860 0.00060
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058

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