ClinVar Miner

List of variants studied for acyl-CoA dehydrogenase 9 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_014049.5(ACAD9):c.347-20C>T rs1683791 0.58733
NM_014049.5(ACAD9):c.379A>C (p.Arg127=) rs1680778 0.45398
NM_014049.5(ACAD9):c.1150-84T>G rs1683777 0.43929
NM_014049.5(ACAD9):c.1279-7A>G rs1683787 0.43618
NM_014049.5(ACAD9):c.1279-76T>C rs1683786 0.43547
NM_014049.5(ACAD9):c.1359-63T>C rs876754 0.43543
NM_014049.5(ACAD9):c.555-116C>G rs789213 0.25543
NM_014049.5(ACAD9):c.1476C>T (p.Pro492=) rs876755 0.24221
NM_014049.5(ACAD9):c.1358+152T>C rs13081342 0.10526
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.1683C>T (p.His561=) rs141647117 0.00531
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.432G>A (p.Ala144=) rs140225132 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.510G>A (p.Ala170=) rs187374592 0.00042
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile) rs149931573 0.00041
NM_014049.5(ACAD9):c.479A>C (p.Glu160Ala) rs145391132 0.00031
NM_014049.5(ACAD9):c.1801G>A (p.Val601Met) rs149595527 0.00022
NM_001394090.1(CFAP92):c.3280+2291G>A rs189130789 0.00018
NM_001394090.1(CFAP92):c.3280+2008C>T rs549991044 0.00016
NM_014049.5(ACAD9):c.1020A>G (p.Gly340=) rs138401844 0.00016
NM_001394090.1(CFAP92):c.3281-2366T>G rs367762859 0.00014
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_014049.5(ACAD9):c.1233G>A (p.Pro411=) rs754767509 0.00013
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.1634C>G (p.Ala545Gly) rs375541221 0.00009
NM_014049.5(ACAD9):c.1596G>C (p.Arg532=) rs368130030 0.00008
NM_014049.5(ACAD9):c.1309G>A (p.Ala437Thr) rs370266841 0.00007
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.91C>T (p.Arg31Cys) rs368630371 0.00006
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=) rs559422558 0.00005
NM_014049.5(ACAD9):c.1717G>A (p.Val573Met) rs138264216 0.00005
NM_014049.5(ACAD9):c.1258C>T (p.Arg420Cys) rs202147766 0.00004
NM_014049.5(ACAD9):c.1684G>A (p.Asp562Asn) rs547697115 0.00004
NM_014049.5(ACAD9):c.778G>A (p.Glu260Lys) rs199504238 0.00004
NM_014049.5(ACAD9):c.868G>A (p.Gly290Arg) rs1018093316 0.00004
NM_014049.5(ACAD9):c.907G>A (p.Gly303Ser) rs143383023 0.00004
NM_014049.5(ACAD9):c.959-6C>T rs368541873 0.00004
NM_014049.5(ACAD9):c.1190C>T (p.Ala397Val) rs768894091 0.00003
NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln) rs781156571 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.1533C>T (p.Thr511=) rs376637096 0.00003
NM_014049.5(ACAD9):c.1551C>T (p.Leu517=) rs751618594 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_014049.5(ACAD9):c.662A>G (p.Asn221Ser) rs761452056 0.00003
NM_014049.5(ACAD9):c.75G>T (p.Ala25=) rs564435799 0.00003
NM_001394090.1(CFAP92):c.3280+2308G>A rs758867335 0.00002
NM_014049.5(ACAD9):c.1013A>C (p.Glu338Ala) rs760934225 0.00002
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys) rs149753643 0.00002
NM_014049.5(ACAD9):c.254G>A (p.Arg85Gln) rs573257268 0.00002
NM_014049.5(ACAD9):c.452A>G (p.Lys151Arg) rs774429198 0.00002
NM_014049.5(ACAD9):c.694G>A (p.Val232Ile) rs371417658 0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_014049.5(ACAD9):c.1029+10G>C rs377266080 0.00001
NM_014049.5(ACAD9):c.102G>T (p.Pro34=) rs750501970 0.00001
NM_014049.5(ACAD9):c.1030-1G>T rs773586510 0.00001
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.1168G>A (p.Ala390Thr) rs763004980 0.00001
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys) rs777282696 0.00001
NM_014049.5(ACAD9):c.1278+1G>T rs766305690 0.00001
NM_014049.5(ACAD9):c.1312C>G (p.Leu438Val) rs749932833 0.00001
NM_014049.5(ACAD9):c.1332C>T (p.Ala444=) rs368597127 0.00001
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=) rs772732061 0.00001
NM_014049.5(ACAD9):c.1399G>A (p.Val467Ile) rs369361055 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.1553G>A (p.Arg518His) rs781149699 0.00001
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp) rs377022708 0.00001
NM_014049.5(ACAD9):c.1595G>A (p.Arg532Gln) rs770127110 0.00001
NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs) rs755346624 0.00001
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln) rs750899715 0.00001
NM_014049.5(ACAD9):c.1705A>C (p.Asn569His) rs769529395 0.00001
NM_014049.5(ACAD9):c.1825C>T (p.Arg609Ter) rs778786636 0.00001
NM_014049.5(ACAD9):c.205C>T (p.Gln69Ter) rs765060373 0.00001
NM_014049.5(ACAD9):c.220G>A (p.Val74Met) rs779258809 0.00001
NM_014049.5(ACAD9):c.253C>T (p.Arg85Ter) rs148694290 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.509C>T (p.Ala170Val) rs762521317 0.00001
NM_014049.5(ACAD9):c.514G>A (p.Gly172Arg) rs761102100 0.00001
NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln) rs387907042 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_014049.4(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.[1846C>T];[359delT]
NM_014049.4(ACAD9):c.[1A>G];[796C>T]
NM_014049.5(ACAD9):c.-65GT[4] rs397874507
NM_014049.5(ACAD9):c.-65GT[6] rs397874507
NM_014049.5(ACAD9):c.1012_1015del (p.Glu338fs)
NM_014049.5(ACAD9):c.1037T>G (p.Phe346Cys)
NM_014049.5(ACAD9):c.106G>C (p.Val36Leu) rs780117832
NM_014049.5(ACAD9):c.1109del (p.Pro370fs) rs1576344664
NM_014049.5(ACAD9):c.1150-2A>G rs2107659422
NM_014049.5(ACAD9):c.1162G>A (p.Glu388Lys)
NM_014049.5(ACAD9):c.1164G>A (p.Glu388=) rs372572429
NM_014049.5(ACAD9):c.1169C>T (p.Ala390Val)
NM_014049.5(ACAD9):c.1185_1188del (p.Ser395fs)
NM_014049.5(ACAD9):c.1191G>A (p.Ala397=) rs774763527
NM_014049.5(ACAD9):c.1195C>T (p.Gln399Ter)
NM_014049.5(ACAD9):c.1245dup (p.Leu416fs)
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys) rs368949613
NM_014049.5(ACAD9):c.1278+1G>A rs766305690
NM_014049.5(ACAD9):c.1279-2A>C
NM_014049.5(ACAD9):c.1288_1291dup (p.Ile431fs) rs2107661371
NM_014049.5(ACAD9):c.1293del (p.Leu432fs)
NM_014049.5(ACAD9):c.130T>A (p.Phe44Ile) rs387907041
NM_014049.5(ACAD9):c.1312_1313del (p.Leu438fs)
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.1344_1347del (p.Thr449fs)
NM_014049.5(ACAD9):c.1344_1348dup (p.Thr450fs) rs1576347955
NM_014049.5(ACAD9):c.1359-104_1387del
NM_014049.5(ACAD9):c.1359-45_1383del rs1936007409
NM_014049.5(ACAD9):c.1366A>G (p.Lys456Glu) rs2107662601
NM_014049.5(ACAD9):c.1376_1381delinsCCT (p.Lys459_Ser461delinsThrCys)
NM_014049.5(ACAD9):c.1385_1386del (p.Thr462fs)
NM_014049.5(ACAD9):c.1397_1398dup (p.Val467fs)
NM_014049.5(ACAD9):c.1423del (p.Leu475fs)
NM_014049.5(ACAD9):c.1429C>G (p.Arg477Gly)
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter) rs866688232
NM_014049.5(ACAD9):c.1477dup (p.Ser493fs)
NM_014049.5(ACAD9):c.1481_1482dup (p.Ala495fs)
NM_014049.5(ACAD9):c.1486-2A>G
NM_014049.5(ACAD9):c.150+1G>T
NM_014049.5(ACAD9):c.151-1_151del rs766026673
NM_014049.5(ACAD9):c.1597del (p.Val533fs)
NM_014049.5(ACAD9):c.15_40del (p.Leu6fs) rs746312225
NM_014049.5(ACAD9):c.1636G>A (p.Val546Met)
NM_014049.5(ACAD9):c.1674_1692+34del rs2107664575
NM_014049.5(ACAD9):c.1675C>A (p.Arg559Ser) rs138871762
NM_014049.5(ACAD9):c.1687C>G (p.His563Asp) rs1057518752
NM_014049.5(ACAD9):c.1692+1G>A
NM_014049.5(ACAD9):c.1693-1G>A
NM_014049.5(ACAD9):c.1693-2A>G rs1553734044
NM_014049.5(ACAD9):c.1715G>A (p.Cys572Tyr) rs778558550
NM_014049.5(ACAD9):c.1752_1753del (p.Gln585fs)
NM_014049.5(ACAD9):c.1765+2T>A
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs) rs917547961
NM_014049.5(ACAD9):c.1806_1816dup (p.Leu606fs)
NM_014049.5(ACAD9):c.1846C>T (p.Pro616Ser) rs863224845
NM_014049.5(ACAD9):c.184dup (p.Asp62fs) rs1935194749
NM_014049.5(ACAD9):c.209del (p.Phe70fs)
NM_014049.5(ACAD9):c.217C>A (p.Pro73Thr) rs557401373
NM_014049.5(ACAD9):c.244+3A>G
NM_014049.5(ACAD9):c.293T>C (p.Leu98Ser)
NM_014049.5(ACAD9):c.326del (p.Leu109fs)
NM_014049.5(ACAD9):c.340G>T (p.Glu114Ter) rs2107648799
NM_014049.5(ACAD9):c.345T>A (p.Tyr115Ter)
NM_014049.5(ACAD9):c.346+160G>C rs1680780
NM_014049.5(ACAD9):c.346+1G>A
NM_014049.5(ACAD9):c.347-1G>A
NM_014049.5(ACAD9):c.347-1G>T
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014049.5(ACAD9):c.366C>T (p.Asn122=) rs1935539638
NM_014049.5(ACAD9):c.379A>T (p.Arg127Ter)
NM_014049.5(ACAD9):c.383T>G (p.Leu128Arg) rs1935540267
NM_014049.5(ACAD9):c.388G>A (p.Glu130Lys) rs1935540558
NM_014049.5(ACAD9):c.41C>T (p.Ala14Val) rs886057954
NM_014049.5(ACAD9):c.453+1G>A
NM_014049.5(ACAD9):c.454-1G>T
NM_014049.5(ACAD9):c.477_495del (p.Glu159fs)
NM_014049.5(ACAD9):c.497_501del (p.Tyr165_Leu166insTer) rs2107651275
NM_014049.5(ACAD9):c.55G>T (p.Gly19Cys)
NM_014049.5(ACAD9):c.5_30dup (p.Thr11fs)
NM_014049.5(ACAD9):c.632A>G (p.Lys211Arg) rs1257611357
NM_014049.5(ACAD9):c.665T>C (p.Ile222Thr) rs863223874
NM_014049.5(ACAD9):c.671_672del (p.Thr224fs)
NM_014049.5(ACAD9):c.719_721delinsCC (p.Asp240fs)
NM_014049.5(ACAD9):c.754delinsAA (p.Gly252fs) rs2107653861
NM_014049.5(ACAD9):c.755G>A (p.Gly252Asp) rs1935665522
NM_014049.5(ACAD9):c.793A>G (p.Ile265Val)
NM_014049.5(ACAD9):c.803C>T (p.Ser268Phe)
NM_014049.5(ACAD9):c.808+63GT[14] rs63473460
NM_014049.5(ACAD9):c.809-1G>A
NM_014049.5(ACAD9):c.825del (p.Phe275fs) rs2107655510
NM_014049.5(ACAD9):c.842C>T (p.Pro281Leu) rs1935731505
NM_014049.5(ACAD9):c.882+1G>A rs750089899
NM_014049.5(ACAD9):c.898C>G (p.Leu300Val)
NM_014049.5(ACAD9):c.957del (p.Ile319fs) rs2107656502
NM_014049.5(ACAD9):c.958+2T>C
NM_014049.5(ACAD9):c.970dup (p.Glu324fs) rs2107657717
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916
NM_014049.5(ACAD9):c.976G>T (p.Ala326Ser) rs115532916

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