List of variants in gene ACAD9 reported as pathogenic for Mitochondrial complex I deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)	rs150283105	0.00014
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)	rs149753643	0.00002
NM_014049.5(ACAD9):c.359del (p.Phe120fs)	rs863224844
NM_014049.5(ACAD9):c.744_747del (p.Arg249fs)
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro)	rs115532916

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