List of variants reported as likely pathogenic for Inherited glutathione synthetase deficiency

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000178.4(GSS):c.373C>T (p.Arg125Cys)	rs28936396	0.00029
NM_000178.4(GSS):c.709C>T (p.Arg237Ter)	rs201925123	0.00001
NM_000178.3(GSS):c.1113_1132del20	rs2147120336
NM_000178.4(GSS):c.1192dup (p.Met398fs)

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