List of variants reported as pathogenic for congenital brain dysgenesis due to glutamine synthetase deficiency

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001033044.4(GLUL):c.1021C>T (p.Arg341Cys)	rs80358215	0.00001
NM_001033044.4(GLUL):c.415del (p.Leu139fs)	rs1650179029
NM_001033044.4(GLUL):c.970C>A (p.Arg324Ser)	rs80358214
NM_001033044.4(GLUL):c.970C>T (p.Arg324Cys)	rs80358214

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