ClinVar Miner

List of variants reported as likely pathogenic for acyl-CoA dehydrogenase deficiency by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys) rs140853839
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449

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