List of variants reported as likely pathogenic for combined oxidative phosphorylation deficiency by UCLA Clinical Genomics Center, UCLA

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001172696.1(TSFM):c.[355G>C];[997C>T]
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg)	rs143697995
NM_139242.4(MTFMT):c.1116del (p.Pro373fs)	rs863224897

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