List of variants reported as pathogenic for inborn disorder of amino acid and other organic acid metabolism by SNPedia

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000048.4(ASL):c.524+2T>G	rs869312976	0.00002
NM_000048.3(ASL):c.292delG	rs869312987
NM_000048.4(ASL):c.1122dup (p.Tyr375fs)	rs869312993
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter)	rs869312994
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)	rs869312985
NM_000048.4(ASL):c.257A>C (p.Glu86Ala)	rs869312986
NM_000048.4(ASL):c.461T>C (p.Leu154Pro)	rs869312988
NM_000048.4(ASL):c.575_580dup (p.Lys192_Arg193dup)	rs869312989
NM_000048.4(ASL):c.718+5G>A	rs869312990
NM_000048.4(ASL):c.762C>A (p.Ser254Arg)	rs869312991
NM_000048.4(ASL):c.889C>T (p.Arg297Trp)	rs869312992

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