List of variants reported as uncertain significance for Multiple acyl-CoA dehydrogenase deficiency by Revvity Omics, Revvity

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)	rs139306043	0.00074
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)	rs200186078	0.00016
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu)	rs148261223	0.00011
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)	rs104894678	0.00002
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)
NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del)
NM_004453.4(ETFDH):c.405+3A>G	rs796051965

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