List of variants reported as pathogenic for Mitochondrial trifunctional protein deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)	rs769580842	0.00003
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)	rs137852771	0.00002
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp)	rs1023807527	0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)	rs780351691	0.00001
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)	rs147103714
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val)	rs764623179
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly)	rs267606859

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