ClinVar Miner

List of variants reported as likely pathogenic for medium chain acyl-CoA dehydrogenase deficiency by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (1):

Medium-chain acyl-coenzyme A dehydrogenase deficiency

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000016.6(ACADM):c.1194+1dup
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)	rs875989857
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser)	rs200754053

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