ClinVar Miner

List of variants reported as pathogenic for acyl-CoA dehydrogenase 9 deficiency

Included ClinVar conditions (1):
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
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.1168G>A (p.Ala390Thr) rs763004980 0.00001
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys) rs777282696 0.00001
NM_014049.5(ACAD9):c.1553G>A (p.Arg518His) rs781149699 0.00001
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp) rs377022708 0.00001
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val) rs762521317 0.00001
NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln) rs387907042 0.00001
NM_014049.4(ACAD9):c.[1015T>G];[2T>G]
NM_014049.4(ACAD9):c.[1030-1G>T];[1249C>T]
NM_014049.4(ACAD9):c.[1237G>A];[1552C>T]
NM_014049.4(ACAD9):c.[1298G>A];[151-2A>G]
NM_014049.4(ACAD9):c.[1552C>T];[1564-6_1569del]
NM_014049.4(ACAD9):c.[1594C>T];[359delT]
NM_014049.4(ACAD9):c.[1595G>A];[976G>A]
NM_014049.4(ACAD9):c.[1A>G];[796C>T]
NM_014049.5(ACAD9):c.1109del (p.Pro370fs) rs1576344664
NM_014049.5(ACAD9):c.1162G>A (p.Glu388Lys)
NM_014049.5(ACAD9):c.1185_1188del (p.Ser395fs)
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys) rs368949613
NM_014049.5(ACAD9):c.1278+1G>A rs766305690
NM_014049.5(ACAD9):c.130T>A (p.Phe44Ile) rs387907041
NM_014049.5(ACAD9):c.1344_1348dup (p.Thr450fs) rs1576347955
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter) rs866688232
NM_014049.5(ACAD9):c.1636G>A (p.Val546Met)
NM_014049.5(ACAD9):c.1687C>G (p.His563Asp) rs1057518752
NM_014049.5(ACAD9):c.184dup (p.Asp62fs) rs1935194749
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916

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