List of variants reported as uncertain significance for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome by Genome-Nilou Lab

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_032861.4(SERAC1):c.1404-3C>G	rs367596327	0.00045
NM_032861.4(SERAC1):c.1259T>C (p.Ile420Thr)	rs114741005	0.00036
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)	rs143065058	0.00014
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg)	rs147085187	0.00013
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)	rs863224200	0.00004
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)	rs375757326	0.00004
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met)	rs779852958	0.00003
NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln)	rs1384614641

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