List of variants reported as pathogenic for combined malonic and methylmalonic acidemia by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)	rs150487794	0.00070
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)	rs746877433	0.00004
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter)	rs387907118	0.00001
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer)	rs1064793662

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