ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP
ETFA, 3-BP DEL, NT808
ETFA, IVS11DS, 1-BP DEL, +1G
ETFB, 1-EX DEL, IVSDS, +1, G-C
ETFDH, 1-BP DEL, 36A
NM_000016.5(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.5(ACADM):c.1124T>C (p.Ile375Thr) rs121434275
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000016.5(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.730T>C (p.Cys244Arg) rs121434276
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.842G>C (p.Arg281Thr) rs121434282
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872
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.268G>A (p.Gly90Ser) rs121908005
NM_000017.4(ACADS):c.274G>T (p.Gly92Cys) rs121908004
NM_000017.4(ACADS):c.307_309GAG[1] (p.Glu104del) rs387906308
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144
NM_000017.4(ACADS):c.323G>A (p.Gly108Asp) rs387906951
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp) rs121908006
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg) rs119458971
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) rs119458969
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970
NM_001286044.1(ACADM):c.-100+1928G>A rs121434277
NM_001286044.1(ACADM):c.-100+662_-100+667del rs864621963
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) rs104894678
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) rs104894677
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr) rs121964953
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) rs121964955
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu) rs121964955

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