ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.(?_75541435)_(76074884_?)del
NC_000001.11:g.(?_75724768)_(75724837_?)del
NC_000001.11:g.(?_75724768)_(75762783_?)del
NC_000001.11:g.(?_75724778)_(75724827_?)del
NC_000001.11:g.(?_75724778)_(75750556_?)del
NC_000001.11:g.(?_75724778)_(75762773_?)del
NC_000001.11:g.(?_75761102)_(75762783_?)del
NC_000001.11:g.(?_75761112)_(75762773_?)del
NC_000015.10:g.(?_76311340)_(76311398_?)del
NM_000016.5(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.5(ACADM):c.1150G>T (p.Glu384Ter) rs748110745
NM_000016.5(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371
NM_000016.5(ACADM):c.1189dup (p.Tyr397fs) rs875989877
NM_000016.5(ACADM):c.1190A>C (p.Tyr397Ser) rs1553127216
NM_000016.5(ACADM):c.1247T>C (p.Ile416Thr) rs760892123
NM_000016.5(ACADM):c.134A>G (p.Gln45Arg) rs757434857
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.217-1G>A rs1570861829
NM_000016.5(ACADM):c.233T>C (p.Ile78Thr) rs398123074
NM_000016.5(ACADM):c.244dup (p.Trp82fs) rs786204566
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.253G>T (p.Gly85Cys) rs398123075
NM_000016.5(ACADM):c.322_325del (p.Ile108fs) rs875989873
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) rs875989859
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.431_434del (p.Lys144fs) rs1057517356
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.447G>T (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
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+2T>C rs148260275
NM_000016.5(ACADM):c.600-18G>A rs370523609
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.67C>T (p.Gln23Ter) rs1570851702
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.5(ACADM):c.880_881AG[1] (p.Arg294fs) rs796051901
NM_000016.5(ACADM):c.927del (p.Phe309fs) rs1557458562
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.984del (p.Met328fs) rs747610156
NM_000016.5(ACADM):c.989_1010del (p.Val330fs) rs1553127172
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000016.6(ACADM):c.1085G>A (p.Gly362Glu)
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.6(ACADM):c.333_345del (p.Glu111fs)
NM_000016.6(ACADM):c.608T>A (p.Leu203Ter)
NM_000016.6(ACADM):c.686del (p.Pro229fs)
NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer) rs1557457623
NM_000016.6(ACADM):c.973dup (p.Glu325fs)
NM_000016.6(ACADM):c.982A>G (p.Met328Val)
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665
NM_000126.4(ETFA):c.493_494GT[1] (p.Ser167fs) rs1298299792
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter) rs754202690
NM_000126.4(ETFA):c.624del (p.Arg209fs) rs1596218695
NM_000126.4(ETFA):c.625del (p.Arg209fs)
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970
NM_001286042.1(ACADM):c.10+3600del rs1325949559
NM_001286044.1(ACADM):c.-100+1877TAT[2] rs1570866192
NM_001286044.1(ACADM):c.-100+1906del rs886042087
NM_001286044.1(ACADM):c.-100+674dup rs1553123071
NM_001286044.1(ACADM):c.-221del rs1319192670
NM_004453.2(ETFDH):c.1367C>T rs398124152
NM_004453.4(ETFDH):c.1169del (p.Gly390fs)
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter) rs773668457
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)
NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter) rs1580422708
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg)
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) rs200920510
NM_004453.4(ETFDH):c.1605_1606AC[1] (p.His536fs)
NM_004453.4(ETFDH):c.207del (p.Asp70fs)
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954
NM_004453.4(ETFDH):c.296_297GT[5] (p.Leu102fs) rs796051962
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro) rs1172887273
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)

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.