GPX1 — 63 ClinVar variants

All ClinVar germline GPX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

7 Benign · 56 Uncertain significance

Full GPX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All GPX1 variants

Benign 7

c.-46C>T Multiple submitters
p.Pro200Leu Multiple submitters gluthathione peroxidase deficiency
p.Ala12_Ala13del Single submitter
p.Ala13del Single submitter
p.Pro77= Single submitter
p.Ala194Thr No assertion criteria GPX1-related disorder
p.Arg5Pro No assertion criteria GPX1-related disorder

Uncertain significance 56

p.Ala132Val Multiple submitters gluthathione peroxidase deficiency
p.Ala140Ser Multiple submitters gluthathione peroxidase deficiency
p.Ile42Thr Multiple submitters gluthathione peroxidase deficiency
p.Pro190Ser Multiple submitters gluthathione peroxidase deficiency
p.Ala10Val Single submitter gluthathione peroxidase deficiency
p.Ala11Thr Single submitter
p.Ala120Val Single submitter gluthathione peroxidase deficiency
p.Ala13_Gln14insAla Single submitter gluthathione peroxidase deficiency
p.Ala18Ser Single submitter gluthathione peroxidase deficiency
p.Ala18Thr Single submitter
p.Ala3Val Single submitter gluthathione peroxidase deficiency
p.Ala4Ser Single submitter
p.Ala87Pro Single submitter
p.Arg100Gln Single submitter gluthathione peroxidase deficiency
p.Arg5Trp Single submitter
p.Asn79Ser Single submitter
p.Asp138Asn Single submitter gluthathione peroxidase deficiency
p.Asp159Gly Single submitter gluthathione peroxidase deficiency
p.Asp172Glu Single submitter
p.Asp191Val Single submitter
p.Asp55Gly Single submitter gluthathione peroxidase deficiency
p.Gln198Ter Single submitter gluthathione peroxidase deficiency
p.Gln58His Single submitter
p.Gln63Arg Single submitter
p.Glu113Gln Single submitter
p.Glu61Lys Single submitter
p.Glu91Lys Single submitter gluthathione peroxidase deficiency
p.Gly121Ala Single submitter gluthathione peroxidase deficiency
p.Gly170Ser Single submitter gluthathione peroxidase deficiency
p.Gly33Ser Single submitter
p.Gly37fs Single submitter gluthathione peroxidase deficiency
p.Gly75Cys Single submitter gluthathione peroxidase deficiency
p.His83Arg Single submitter
p.Ile188Met Single submitter gluthathione peroxidase deficiency
p.Ile42Phe Single submitter
p.Leu111Phe Single submitter
p.Leu125Phe Single submitter
p.Leu40Gln Single submitter
p.Leu96Phe Single submitter
p.Leu96Pro Single submitter
p.Lys88Gln Single submitter
p.Phe112Leu Single submitter
p.Phe76Leu Single submitter gluthathione peroxidase deficiency
p.Pro101Arg Single submitter gluthathione peroxidase deficiency
p.Pro147Arg Single submitter gluthathione peroxidase deficiency
p.Pro147Ser Single submitter gluthathione peroxidase deficiency
p.Pro171Leu Single submitter gluthathione peroxidase deficiency
p.Pro171Ser Single submitter gluthathione peroxidase deficiency
p.Pro23Gln Single submitter gluthathione peroxidase deficiency
p.Pro23Leu Single submitter gluthathione peroxidase deficiency
p.Pro29Thr Single submitter gluthathione peroxidase deficiency
p.Ser34Tyr Single submitter
p.Ser47Phe Single submitter
p.Thr185Ser Single submitter
p.Tyr17Cys Single submitter
c.252+138G>C No assertion criteria GPX1-related disorder