List of variants reported as pathogenic for Inherited glutathione synthetase deficiency

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000178.4(GSS):c.491G>A (p.Arg164Gln)	rs121909307	0.00004
NM_000178.4(GSS):c.656A>G (p.Asp219Gly)	rs28938472	0.00001
NM_000178.4(GSS):c.847C>T (p.Arg283Cys)	rs121909309	0.00001
NM_000178.4(GSS):c.-9+5G>A	rs1555889738
NM_000178.4(GSS):c.4del (p.Ala2fs)	rs752560204

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