ClinVar Miner

List of variants reported as likely pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) rs747268471 0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys) rs1648832587 0.00001
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser) rs746136472 0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) rs875989859 0.00001
NC_000001.10:g.(?_76190031)_(76229365_?)del
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr) rs1361089796
NM_000016.6(ACADM):c.19C>T (p.Arg7Ter) rs1455996178
NM_000016.6(ACADM):c.224del (p.Val75fs) rs1057516480
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs) rs2100365750
NM_000016.6(ACADM):c.454G>T (p.Glu152Ter) rs1557446524
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.6(ACADM):c.913G>T (p.Glu305Ter) rs1215335509
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)

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