ClinVar Miner

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

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Total variants: 10
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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.1249C>T (p.Arg417Cys) rs368949613
NM_014049.5(ACAD9):c.151-1_151del rs766026673
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014049.5(ACAD9):c.634-1G>A
NM_014049.5(ACAD9):c.959-3C>G rs1553731751
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916

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