List of variants reported as pathogenic for 2-methylbutyryl-CoA dehydrogenase deficiency by Invitae

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)	rs58639322	0.00060
NM_001609.4(ACADSB):c.303+1G>A	rs147936696	0.00037
NM_001609.4(ACADSB):c.375dup (p.Glu126fs)	rs756587384	0.00037
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)	rs188094280	0.00026
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)	rs374420253	0.00008
NM_001609.4(ACADSB):c.1165A>G (p.Met389Val)	rs201877440	0.00004
NM_001609.4(ACADSB):c.763C>T (p.Leu255Phe)	rs137852649	0.00002
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)	rs760791287	0.00001
NM_001609.4(ACADSB):c.303+3A>G	rs1345480688	0.00001
NM_001609.4(ACADSB):c.655G>A (p.Val219Met)	rs553730391	0.00001
NM_001609.4(ACADSB):c.1172del (p.Gly391fs)
NM_001609.4(ACADSB):c.275C>G (p.Ser92Ter)
NM_001609.4(ACADSB):c.356del (p.Leu119fs)
NM_001609.4(ACADSB):c.653dup (p.Val219fs)	rs755014798
NM_001609.4(ACADSB):c.878dup (p.Gly293_Arg294insTer)

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