List of variants reported as likely pathogenic for Deficiency of isobutyryl-CoA dehydrogenase

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)	rs200620279	0.00019
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)	rs121908419	0.00016
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr)	rs367857040	0.00006
NM_014384.3(ACAD8):c.289G>A (p.Gly97Arg)	rs371033488	0.00002
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln)	rs121908422	0.00002
NM_014384.3(ACAD8):c.2T>C (p.Met1Thr)	rs767041100	0.00001
NM_014384.3(ACAD8):c.845C>T (p.Ser282Phe)	rs770663870	0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)	rs121908420	0.00001
NM_014384.3(ACAD8):c.989G>A (p.Arg330Gln)	rs752153225	0.00001
NM_014384.3(ACAD8):c.1A>G (p.Met1Val)
NM_014384.3(ACAD8):c.205C>T (p.Gln69Ter)
NM_014384.3(ACAD8):c.3G>C (p.Met1Ile)
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys)	rs779385985
NM_014384.3(ACAD8):c.758T>G (p.Val253Gly)
NM_014384.3(ACAD8):c.939+1G>T

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