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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)	rs387907236	0.00002
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter)	rs199632531	0.00001
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter)	rs780664696	0.00001
NM_032861.4(SERAC1):c.438del (p.Thr147fs)	rs1583595091

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