List of variants in gene GSS reported as pathogenic for 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: 8

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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.491G>A (p.Arg164Gln)	rs121909307	0.00004
NM_000178.4(GSS):c.799C>T (p.Arg267Trp)	rs121909308	0.00001
NM_000178.4(GSS):c.847C>T (p.Arg283Cys)	rs121909309	0.00001
NC_000020.10:g.(?_33516631)_(33517413_?)del
NM_000178.4(GSS):c.4del (p.Ala2fs)	rs752560204
NM_000178.4(GSS):c.656A>C (p.Asp219Ala)
NM_000178.4(GSS):c.[1139_1144del;941C>T]

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