List of variants reported as pathogenic for classic organic aciduria by Myriad Genetics, Inc.

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_002225.5(IVD):c.932C>T (p.Ala311Val)	rs28940889	0.00077
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00039
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_001370658.1(BTD):c.410G>A (p.Arg137His)	rs146015592	0.00016
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	rs28941784	0.00014
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	rs80338686	0.00011
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)	rs28934601	0.00006
NM_052845.4(MMAB):c.291-1G>A	rs199971687	0.00003
NM_052845.4(MMAB):c.197-1G>T	rs763935916	0.00001
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)	rs397507445
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	rs80338684
NM_025136.4(OPA3):c.143-1G>C	rs80356523

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