List of variants studied for combined malonic and methylmalonic acidemia by Revvity Omics, Revvity

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)	rs141090143	0.00278
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)	rs150487794	0.00071
NM_001243279.3(ACSF3):c.1613+3A>C	rs373631805	0.00018
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)	rs202182978	0.00016
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)	rs368696141	0.00010
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)	rs746877433	0.00004
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)	rs201954387	0.00002
NM_001243279.3(ACSF3):c.666+1G>A	rs1336382616	0.00001
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro)	rs137995833
NM_001243279.3(ACSF3):c.1367-23_1396del
NM_001243279.3(ACSF3):c.136_146del (p.Val46fs)	rs2151405491
NM_001243279.3(ACSF3):c.1376T>C (p.Val459Ala)
NM_001243279.3(ACSF3):c.1614-2A>G
NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln)	rs140328142
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)	rs2151444797

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