ClinVar Miner

List of variants studied for acyl-CoA dehydrogenase 9 deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_014049.5(ACAD9):c.379A>C (p.Arg127=) rs1680778 0.45398
NM_014049.5(ACAD9):c.1279-7A>G rs1683787 0.43618
NM_014049.5(ACAD9):c.1476C>T (p.Pro492=) rs876755 0.24221
NM_001394090.1(CFAP92):c.3281-2305C>T rs9830739 0.09177
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_014049.5(ACAD9):c.787T>C (p.Leu263=) rs1979529 0.02566
NM_001394090.1(CFAP92):c.3281-2342G>A rs116106966 0.01973
NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln) rs4494951 0.01364
NM_014049.4(ACAD9):c.-168T>C rs183973851 0.01194
NM_001394090.1(CFAP92):c.3280+2181A>C rs114763241 0.01039
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile) rs139073821 0.00112
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903 0.00107
NM_001394090.1(CFAP92):c.3280+2171G>A rs530217617 0.00093
NM_014049.5(ACAD9):c.453+8A>G rs199919500 0.00092
NM_014049.5(ACAD9):c.1221A>G (p.Thr407=) rs139048558 0.00066
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) rs141874052 0.00061
NM_014049.5(ACAD9):c.195T>C (p.Asn65=) rs144978857 0.00048
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile) rs149931573 0.00041
NM_001394090.1(CFAP92):c.3280+2291G>A rs189130789 0.00018
NM_001394090.1(CFAP92):c.3280+2008C>T rs549991044 0.00016
NM_001394090.1(CFAP92):c.3281-2366T>G rs367762859 0.00014
NM_001394090.1(CFAP92):c.3280+2013C>T rs765999383 0.00012
NM_014049.5(ACAD9):c.442A>G (p.Ile148Val) rs202119704 0.00011
NM_001394090.1(CFAP92):c.3281-2300G>A rs373417322 0.00009
NM_014049.4(ACAD9):c.-91G>T rs749695064 0.00009
NM_014049.5(ACAD9):c.1664G>A (p.Arg555His) rs200134546 0.00007
NM_014049.5(ACAD9):c.693C>T (p.Val231=) rs778831368 0.00006
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=) rs559422558 0.00005
NM_014049.5(ACAD9):c.1258C>T (p.Arg420Cys) rs202147766 0.00004
NM_014049.5(ACAD9):c.778G>A (p.Glu260Lys) rs199504238 0.00004
NM_014049.5(ACAD9):c.907G>A (p.Gly303Ser) rs143383023 0.00004
NM_014049.5(ACAD9):c.1190C>T (p.Ala397Val) rs768894091 0.00003
NM_014049.5(ACAD9):c.1415G>A (p.Arg472Gln) rs762081272 0.00003
NM_014049.5(ACAD9):c.1525G>A (p.Gly509Ser) rs141036010 0.00003
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys) rs1057523761 0.00003
NM_014049.5(ACAD9):c.44G>C (p.Arg15Pro) rs886057955 0.00003
NM_014049.5(ACAD9):c.555T>G (p.Ser185Arg) rs781738719 0.00003
NM_014049.5(ACAD9):c.634-3C>T rs187282664 0.00003
NM_001394090.1(CFAP92):c.3280+2308G>A rs758867335 0.00002
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=) rs886057957 0.00001
NM_014049.5(ACAD9):c.1063G>A (p.Val355Ile) rs1266273831 0.00001
NM_014049.5(ACAD9):c.1069G>A (p.Glu357Lys) rs765411526 0.00001
NM_014049.5(ACAD9):c.1150-5C>T rs1389811503 0.00001
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=) rs772732061 0.00001
NM_014049.5(ACAD9):c.1474C>T (p.Pro492Ser) rs886057958 0.00001
NM_014049.5(ACAD9):c.1496A>G (p.Asn499Ser) rs369787602 0.00001
NM_014049.5(ACAD9):c.1705A>C (p.Asn569His) rs769529395 0.00001
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala) rs761565265 0.00001
NM_014049.5(ACAD9):c.346+15del rs886057956 0.00001
NM_014049.5(ACAD9):c.453+2T>A rs1179305061 0.00001
NM_014049.5(ACAD9):c.906C>T (p.Ser302=) rs551193020 0.00001
NM_001394090.1(CFAP92):c.3280+2280TC[4] rs146518015
NM_001394090.1(CFAP92):c.3281-493A>G rs764208038
NM_014049.5(ACAD9):c.-65GT[4] rs397874507
NM_014049.5(ACAD9):c.-65GT[6] rs397874507
NM_014049.5(ACAD9):c.106G>C (p.Val36Leu) rs780117832
NM_014049.5(ACAD9):c.1191G>A (p.Ala397=) rs774763527
NM_014049.5(ACAD9):c.1330G>A (p.Ala444Thr) rs753310622
NM_014049.5(ACAD9):c.1331C>T (p.Ala444Val) rs549861940
NM_014049.5(ACAD9):c.1675C>A (p.Arg559Ser) rs138871762
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014049.5(ACAD9):c.366C>T (p.Asn122=) rs1935539638
NM_014049.5(ACAD9):c.383T>G (p.Leu128Arg) rs1935540267
NM_014049.5(ACAD9):c.41C>T (p.Ala14Val) rs886057954
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916

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