List of variants in gene ACAD9 studied for Mitochondrial complex I deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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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.796C>T (p.Arg266Trp)	rs753711253	0.00002
NM_014049.5(ACAD9):c.1029+1dup	rs2107657797
NM_014049.5(ACAD9):c.1240C>A (p.Arg414Ser)	rs777282696
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys)	rs368949613
NM_014049.5(ACAD9):c.151-1_151del	rs766026673
NM_014049.5(ACAD9):c.293T>C (p.Leu98Ser)
NM_014049.5(ACAD9):c.359del (p.Phe120fs)	rs863224844
NM_014049.5(ACAD9):c.634-1G>A
NM_014049.5(ACAD9):c.744_747del (p.Arg249fs)
NM_014049.5(ACAD9):c.959-3C>G	rs1553731751
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro)	rs115532916

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