List of variants reported as likely pathogenic for combined malonic and methylmalonic acidemia by Revvity Omics, Revvity

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	rs141090143	0.00273
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.1614-2A>G	rs201475621	0.00003
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)	rs201954387	0.00002
NM_001243279.3(ACSF3):c.1367-23_1396del	rs1567745645
NM_001243279.3(ACSF3):c.136_146del (p.Val46fs)	rs2151405491
NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln)	rs140328142

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