List of variants reported as pathogenic for Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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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.1678C>T (p.Arg560Ter)	rs137852771	0.00002
NM_000182.5(HADHA):c.1059del (p.Lys353fs)	rs1227493628
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)	rs749848370

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