ClinVar Miner

List of variants reported as 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: 9
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NM_000016.5(ACADM):c.1194+1G>A rs769331400
NM_000016.5(ACADM):c.244dup (p.Trp82fs) rs786204566
NM_000016.5(ACADM):c.387+1G>A rs1057516983
NM_000016.5(ACADM):c.431_434del (p.Lys144fs) rs1057517356
NM_000016.5(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.5(ACADM):c.946-2A>C rs758753966
NM_000016.5(ACADM):c.946-6T>G rs765793260
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875
NM_000017.4(ACADS):c.307_309GAG[1] (p.Glu104del) rs387906308

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