ClinVar Miner

List of variants reported as likely pathogenic for inherited glutathione metabolism disease

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000178.4(GSS):c.373C>T (p.Arg125Cys) rs28936396 0.00029
NM_017570.5(OPLAH):c.2303G>A (p.Arg768His) rs539275646 0.00004
NM_017570.5(OPLAH):c.659C>T (p.Ser220Leu) rs781785267 0.00003
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.709C>T (p.Arg237Ter) rs201925123 0.00001
NM_000178.4(GSS):c.809A>G (p.Tyr270Cys) rs1325986563 0.00001
NM_000637.5(GSR):c.640G>A (p.Gly214Ser) rs1040248294 0.00001
NM_017570.5(OPLAH):c.169C>T (p.Gln57Ter) rs199718844 0.00001
NM_017570.5(OPLAH):c.3016C>T (p.Gln1006Ter) rs782331682 0.00001
NM_017570.5(OPLAH):c.587+1G>A rs1272869557 0.00001
NM_000178.3(GSS):c.1113_1132del20 rs2147120336
NM_000178.4(GSS):c.1030-1G>C rs2081400664
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.1192dup (p.Met398fs) rs2519016906
NM_000178.4(GSS):c.1227C>A (p.Cys409Ter) rs2081381650
NM_000178.4(GSS):c.130-1G>C rs2519036640
NM_000178.4(GSS):c.1416C>A (p.Tyr472Ter)
NM_000178.4(GSS):c.275+1G>A rs2519036298
NM_000178.4(GSS):c.275+2T>G
NM_000178.4(GSS):c.351+1G>C rs773779413
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.609-2A>C rs2519026756
NM_000178.4(GSS):c.656A>C (p.Asp219Ala) rs28938472
NM_000178.4(GSS):c.768-2A>C
NM_000178.4(GSS):c.820C>T (p.Gln274Ter)
NM_000637.5(GSR):c.342del (p.Met113_Trp114insTer) rs2486583478
NM_000637.5(GSR):c.94G>T (p.Glu32Ter) rs770133920
NM_002085.5(GPX4):c.365del (p.Gly122fs) rs2512693319
NM_002085.5(GPX4):c.438_441del (p.Lys145_Trp146insTer) rs772394824
NM_002085.5(GPX4):c.502-1del rs1555716575
NM_017570.5(OPLAH):c.1707-2A>G
NM_017570.5(OPLAH):c.193dup (p.Arg65fs)
NM_017570.5(OPLAH):c.2132_2133dup (p.Thr712Ter)
NM_017570.5(OPLAH):c.2686+1G>T rs2540247952
NM_017570.5(OPLAH):c.3018+1G>T
NM_017570.5(OPLAH):c.3019-2A>G rs2540242461
NM_017570.5(OPLAH):c.3168dup (p.Val1057fs)
NM_017570.5(OPLAH):c.3394G>T (p.Gly1132Trp) rs782653195
NM_017570.5(OPLAH):c.3427dup (p.Thr1143fs)
NM_017570.5(OPLAH):c.3853C>T (p.Gln1285Ter)
NM_017570.5(OPLAH):c.744C>A (p.Tyr248Ter)
NM_017570.5(OPLAH):c.893C>G (p.Ser298Ter) rs1554759918
NM_017570.5(OPLAH):c.992_993dup (p.Val332fs)

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