List of variants in gene GSS reported as pathogenic for inherited glutathione metabolism disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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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	0.00002
NM_000178.4(GSS):c.1020dup (p.Leu341fs)	rs751797884	0.00001
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.368_382del (p.Leu123_Tyr128delinsHis)	rs2081492603	0.00001
NM_000178.4(GSS):c.588G>A (p.Trp196Ter)	rs1421472804	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.709C>T (p.Arg237Ter)	rs201925123	0.00001
NM_000178.4(GSS):c.754C>T (p.Arg252Ter)	rs749741013	0.00001
NM_000178.4(GSS):c.847C>T (p.Arg283Cys)	rs121909309	0.00001
NM_000178.4(GSS):c.922C>T (p.Gln308Ter)	rs983871391	0.00001
NC_000020.10:g.(?_33516631)_(33517413_?)del
NM_000178.4(GSS):c.-9+5G>A	rs1555889738
NM_000178.4(GSS):c.1045del (p.Gln349fs)	rs2519019647
NM_000178.4(GSS):c.105del (p.Ser36fs)	rs2519043873
NM_000178.4(GSS):c.1103_1104del (p.Glu368fs)	rs2519019498
NM_000178.4(GSS):c.1227C>A (p.Cys409Ter)	rs2081381650
NM_000178.4(GSS):c.14G>A (p.Trp5Ter)
NM_000178.4(GSS):c.325C>T (p.Gln109Ter)	rs2519033349
NM_000178.4(GSS):c.374G>A (p.Arg125His)	rs748780943
NM_000178.4(GSS):c.37C>T (p.Gln13Ter)
NM_000178.4(GSS):c.490C>T (p.Arg164Ter)	rs773018519
NM_000178.4(GSS):c.49G>T (p.Glu17Ter)	rs780432814
NM_000178.4(GSS):c.4del (p.Ala2fs)	rs752560204
NM_000178.4(GSS):c.527del (p.Ala176fs)	rs2519031306
NM_000178.4(GSS):c.547_550del (p.Asn183fs)	rs2519031249
NM_000178.4(GSS):c.574del (p.Ile192fs)	rs757968278
NM_000178.4(GSS):c.587G>A (p.Trp196Ter)	rs2519031166
NM_000178.4(GSS):c.656A>C (p.Asp219Ala)	rs28938472
NM_000178.4(GSS):c.658C>T (p.Gln220Ter)	rs2519026632
NM_000178.4(GSS):c.882C>A (p.Cys294Ter)	rs2519020812
NM_000178.4(GSS):c.[1139_1144del;941C>T]

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