List of variants reported as likely pathogenic for classic organic aciduria by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	rs141090143	0.00278
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)	rs119103212	0.00006
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)	rs797045105	0.00001
NC_000023.10:g.(?_153640181)_(153641904_?)del
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter)	rs397515738
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg)	rs397515740
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)	rs397515739
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)	rs727504327
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)	rs397515746
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val)	rs727504431
NM_001370658.1(BTD):c.-17+1G>A	rs1057516440
NM_014362.4(HIBCH):c.809+1G>A	rs143746450
NM_014362.4(HIBCH):c.852del (p.Leu284fs)	rs1131692017

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