ClinVar Miner

List of variants reported as pathogenic for Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)	rs201754030	0.00136
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)	rs121909485	0.00004

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