List of variants in gene GSS reported as pathogenic for Glutathione synthetase deficiency without 5-oxoprolinuria; Glutathione synthetase deficiency with 5-oxoprolinuria

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000178.4(GSS):c.709C>T (p.Arg237Ter)	rs201925123	0.00001
NM_000178.4(GSS):c.4del (p.Ala2fs)	rs752560204
NM_000178.4(GSS):c.656A>C (p.Asp219Ala)

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