ClinVar Miner

List of variants studied for acyl-CoA dehydrogenase 9 deficiency by Baylor Genetics

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) rs141874052 0.00061
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_014049.5(ACAD9):c.479A>C (p.Glu160Ala) rs145391132 0.00031
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_014049.5(ACAD9):c.91C>T (p.Arg31Cys) rs368630371 0.00006
NM_014049.5(ACAD9):c.868G>A (p.Gly290Arg) rs1018093316 0.00004
NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln) rs781156571 0.00003
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys) rs1057523761 0.00003
NM_014049.5(ACAD9):c.662A>G (p.Asn221Ser) rs761452056 0.00003
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.1030-1G>T rs773586510 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.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.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.453+2T>A rs1179305061 0.00001
NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln) rs387907042 0.00001
NM_014049.5(ACAD9):c.1012_1015del (p.Glu338fs)
NM_014049.5(ACAD9):c.1150-2A>G rs2107659422
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.1312_1313del (p.Leu438fs)
NM_014049.5(ACAD9):c.1344_1347del (p.Thr449fs)
NM_014049.5(ACAD9):c.1359-104_1387del
NM_014049.5(ACAD9):c.1359-45_1383del rs1936007409
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>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.1692+1G>A
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.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+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.379A>T (p.Arg127Ter)
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.5_30dup (p.Thr11fs)
NM_014049.5(ACAD9):c.671_672del (p.Thr224fs)
NM_014049.5(ACAD9):c.719_721delinsCC (p.Asp240fs)
NM_014049.5(ACAD9):c.809-1G>A
NM_014049.5(ACAD9):c.825del (p.Phe275fs) rs2107655510
NM_014049.5(ACAD9):c.882+1G>A rs750089899
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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