List of variants reported as uncertain significance for classic organic aciduria by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)	rs140806722	0.00262
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)	rs148091558	0.00163
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)	rs150555106	0.00158
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg)	rs147457956	0.00085
NM_000282.4(PCCA):c.1065+5C>T	rs201597816	0.00083
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)	rs138680796	0.00019
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala)	rs201953109	0.00011
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)	rs202189863	0.00010
NM_001370658.1(BTD):c.635T>G (p.Phe212Cys)	rs768097543	0.00002
NM_001370658.1(BTD):c.1473G>C (p.Gln491His)	rs764375610	0.00001
NC_000019.10:g.39480831G>A	rs1600735654
NM_001243279.3(ACSF3):c.1016T>C (p.Val339Ala)
NM_001243279.3(ACSF3):c.1052T>C (p.Leu351Pro)
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)	rs144681140
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp)	rs1389815526

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