ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val) rs143408155 0.00041
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004

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