List of variants reported as pathogenic for Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Mitochondrial trifunctional protein deficiency 1

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)	rs137852769	0.00182
NM_000182.5(HADHA):c.180+3A>G	rs781222705	0.00005
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)	rs769580842	0.00003
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)	rs137852771	0.00002

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