ClinVar Miner

List of variants reported as likely pathogenic for acyl-CoA dehydrogenase deficiency by Counsyl

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.1045C>T (p.Arg349Ter) rs148207467
NM_000016.5(ACADM):c.1045del (p.Arg349fs) rs1057516463
NM_000016.5(ACADM):c.1073del (p.Lys358fs) rs1057517411
NM_000016.5(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.5(ACADM):c.1150G>T (p.Glu384Ter) rs748110745
NM_000016.5(ACADM):c.118+1G>T rs113887538
NM_000016.5(ACADM):c.1195-1G>C rs1553127378
NM_000016.5(ACADM):c.1195-2A>T rs879234543
NM_000016.5(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.1A>G (p.Met1Val) rs1057516778
NM_000016.5(ACADM):c.216+1G>T rs1057516801
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.286+2T>G rs1553122996
NM_000016.5(ACADM):c.30+2T>C rs768596219
NM_000016.5(ACADM):c.320T>C (p.Leu107Ser) rs746136472
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) rs875989859
NM_000016.5(ACADM):c.387+1G>T rs1057516983
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.3G>C (p.Met1Ile) rs1553121887
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.469-2A>C rs1553123857
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.599+1G>A rs866388216
NM_000016.5(ACADM):c.599+2T>C rs148260275
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000016.5(ACADM):c.617G>A (p.Arg206His) rs200724875
NM_000016.5(ACADM):c.617G>T (p.Arg206Leu) rs200724875
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.5(ACADM):c.708+2T>G rs1553124805
NM_000016.5(ACADM):c.709-1G>A rs941714381
NM_000016.5(ACADM):c.709-2A>C rs1553125211
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.5(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.5(ACADM):c.826_828delinsCC (p.Ala276fs) rs1553125264
NM_000016.5(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.5(ACADM):c.850-2A>G rs761317029
NM_000016.5(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.5(ACADM):c.949C>T (p.Gln317Ter) rs1057516564
NM_000016.5(ACADM):c.955_956AT[1] (p.Ser320fs) rs1057517103
NM_000016.5(ACADM):c.959C>A (p.Ser320Ter) rs1057516485
NM_000016.5(ACADM):c.977T>C (p.Met326Thr) rs786204631
NM_000016.5(ACADM):c.984del (p.Met328fs) rs747610156
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000017.4(ACADS):c.1029+1G>A rs1057516639
NM_000017.4(ACADS):c.1030-1G>A rs1226857910
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950
NM_000017.4(ACADS):c.1031del (p.Glu344fs) rs1057517155
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.107dup (p.Thr37fs) rs750941135
NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter) rs541587321
NM_000017.4(ACADS):c.1086+1G>A rs1555244367
NM_000017.4(ACADS):c.1086+1G>T rs1555244367
NM_000017.4(ACADS):c.1086+1del rs1555244366
NM_000017.4(ACADS):c.1095G>T (p.Gln365His) rs368469075
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872
NM_000017.4(ACADS):c.1164_1165del (p.Glu389fs) rs1057516421
NM_000017.4(ACADS):c.125_135del (p.Leu42fs) rs1057516733
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969
NM_000017.4(ACADS):c.211-1G>A rs1057516566
NM_000017.4(ACADS):c.29_35dup (p.Ala13fs) rs765758808
NM_000017.4(ACADS):c.315del (p.Ser106fs) rs1057516385
NM_000017.4(ACADS):c.32del (p.Gly11fs) rs1057516967
NM_000017.4(ACADS):c.369C>G (p.Tyr123Ter) rs749491616
NM_000017.4(ACADS):c.409C>T (p.Gln137Ter) rs752677472
NM_000017.4(ACADS):c.417G>A (p.Trp139Ter) rs149107232
NM_000017.4(ACADS):c.473-2A>G rs1057516231
NM_000017.4(ACADS):c.527C>A (p.Ser176Ter) rs1057516848
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665
NM_000017.4(ACADS):c.593_594del (p.Phe198fs) rs1057516685
NM_000017.4(ACADS):c.675dup (p.Lys226fs) rs1057516436
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) rs796051906
NM_001286042.1(ACADM):c.10+3660_10+3666dup rs875989875
NM_001286044.1(ACADM):c.-100+1905AAG[2] rs875989857
NM_001286044.1(ACADM):c.-100+1918del rs749529577
NM_001286044.1(ACADM):c.-122_-121CA[3] rs766173642
NM_001286044.1(ACADM):c.-162del rs1057516480
NM_001286044.1(ACADM):c.-217_-216AG[2] rs1057517179

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.