List of variants reported as likely pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency by Revvity Omics, Revvity

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000016.6(ACADM):c.600-18G>A	rs370523609	0.00051
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)	rs778906552	0.00003
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)	rs747268471	0.00003
NM_000016.6(ACADM):c.601del (p.Tyr201fs)	rs772650083	0.00002
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp)	rs781424858	0.00001
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)	rs398123075	0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)	rs121434281	0.00001
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)	rs875989865
NM_000016.6(ACADM):c.1068_1071dup (p.Lys358fs)	rs2100453287
NM_000016.6(ACADM):c.1194+2T>G
NM_000016.6(ACADM):c.165del (p.Phe55fs)	rs1319192670
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly)	rs875989863

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