List of variants reported as likely pathogenic for classic organic aciduria by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)	rs372918203	0.00012
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)	rs387907236	0.00002
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs)	rs1591363795
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)	rs2068606445
NM_000255.4(MMUT):c.785G>T (p.Ser262Ile)	rs1767683356
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)	rs1050035768
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)	rs1114167288
NM_015506.3(MMACHC):c.616del (p.Arg206fs)	rs1163462384
NM_145261.4(DNAJC19):c.158G>A (p.Gly53Glu)	rs755024172

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