List of variants reported as likely pathogenic for glutathione synthetase deficiency without 5-oxoprolinuria

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Total variants: 18

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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.799C>T (p.Arg267Trp)	rs121909308	0.00002
NM_000178.4(GSS):c.1252C>T (p.Arg418Ter)	rs1486049191	0.00001
NM_000178.4(GSS):c.127G>T (p.Glu43Ter)	rs2519043780	0.00001
NM_000178.4(GSS):c.656A>G (p.Asp219Gly)	rs28938472	0.00001
NM_000178.4(GSS):c.706C>T (p.Arg236Ter)	rs765110067	0.00001
NM_000178.4(GSS):c.110_119del (p.Gln37fs)
NM_000178.4(GSS):c.1139_1144del (p.Val380_Gln381del)	rs770455024
NM_000178.4(GSS):c.1142del (p.Gln381fs)
NM_000178.4(GSS):c.1227C>A (p.Cys409Ter)	rs2081381650
NM_000178.4(GSS):c.1416C>A (p.Tyr472Ter)
NM_000178.4(GSS):c.275+2T>G
NM_000178.4(GSS):c.421A>T (p.Lys141Ter)
NM_000178.4(GSS):c.490C>T (p.Arg164Ter)	rs773018519
NM_000178.4(GSS):c.4del (p.Ala2fs)	rs752560204
NM_000178.4(GSS):c.574del (p.Ile192fs)	rs757968278
NM_000178.4(GSS):c.768-2A>C
NM_000178.4(GSS):c.820C>T (p.Gln274Ter)

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