ClinVar Miner

List of variants reported as likely pathogenic for Glutathione synthetase deficiency with 5-oxoprolinuria by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000178.4(GSS):c.799C>T (p.Arg267Trp)	rs121909308	0.00001
NM_000178.4(GSS):c.1139_1144del (p.Val380_Gln381del)	rs770455024
NM_000178.4(GSS):c.809A>G (p.Tyr270Cys)

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