List of variants reported as uncertain significance for Combined malonic and methylmalonic acidemia by Genome-Nilou Lab

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)	rs139520739	0.00012
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)	rs141518662	0.00010
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)	rs145285434	0.00009
NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr)	rs144411003	0.00009
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr)	rs759448696	0.00007
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)	rs147538370	0.00004
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)	rs747338200	0.00002
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)	rs901081235	0.00002
NM_001243279.3(ACSF3):c.1145T>C (p.Leu382Pro)	rs781134234	0.00001

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