GSR — 231 ClinVar variants
All ClinVar germline GSR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →
4 Pathogenic · 3 Likely pathogenic · 10 Conflicting · 30 Benign · 10 Benign/Likely benign · 49 Likely benign · 125 Uncertain significance
Full GSR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 117
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- GSR p.Ala199Thr Conflicting Single submitter
-
GSR p.Arg141Cys
Conflicting
Single submitter
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Gly232Ser
Conflicting
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Gly315Ser Conflicting Single submitter
-
GSR p.Val289Ala
Conflicting
Single submitter
hemolytic anemia due to glutathione reductase deficiency
Predictors lean, ClinVar uncertain 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GSR p.Ala7Ser
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Arg147Gly
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Arg147Trp
Uncertain significance
Multiple submitters
GSR-related disorder
-
GSR p.Arg171Leu
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Arg233His
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Arg522His
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Cys102Trp
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Gln159Leu
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Ile143Thr
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Ile421Val Uncertain significance Multiple submitters
-
GSR p.Lys111Gln
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Pro231Ala Uncertain significance Multiple submitters
-
GSR p.Ser293Cys
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Thr163Ile
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Thr279Met
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Thr445Met
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Trp16Leu
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Val373Ile
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Val373Leu
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Ala127Val
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Ala34Thr Uncertain significance Single submitter
- GSR p.Ala39Thr Uncertain significance Single submitter
-
GSR p.Ala509Thr
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Ala61Ser Uncertain significance Single submitter
-
GSR p.Arg147Gln
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Arg17Gln Uncertain significance Single submitter
- GSR p.Arg24Gln Uncertain significance Single submitter
-
GSR p.Arg262Gln
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Arg6Gln Uncertain significance Single submitter
- GSR p.Asn277Thr Uncertain significance Single submitter
-
GSR p.Asp341Glu
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Asp352Asn
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Asp503His Uncertain significance Single submitter
- GSR p.Cys102Ser Uncertain significance Single submitter
- GSR p.Cys134Tyr Uncertain significance Single submitter
- GSR p.Glu185Asp Uncertain significance Single submitter
-
GSR p.Glu399Ala
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Glu85Asp Uncertain significance Single submitter
- GSR p.Gly188Arg Uncertain significance Single submitter
- GSR p.Gly25Ser Uncertain significance Single submitter
- GSR p.Gly348Arg Uncertain significance Single submitter
- GSR p.Gly369Asp Uncertain significance Single submitter
- GSR p.Gly498Val Uncertain significance Single submitter
- GSR p.Gly71Arg Uncertain significance Single submitter
- GSR p.Gly73Cys Uncertain significance Single submitter
- GSR p.His166Arg Uncertain significance Single submitter
- GSR p.His173Leu Uncertain significance Single submitter
- GSR p.Ile242Thr Uncertain significance Single submitter
- GSR p.Ile242Val Uncertain significance Single submitter
-
GSR p.Ile261Val
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Ile323Leu
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Ile333Thr Uncertain significance Single submitter
- GSR p.Ile432Val Uncertain significance Single submitter
- GSR p.Leu28Pro Uncertain significance Single submitter
- GSR p.Leu329Gln Uncertain significance Single submitter
- GSR p.Leu330Pro Uncertain significance Single submitter
-
GSR p.Leu393Phe
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Lys354Glu
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Lys496Gln
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Lys97Arg Uncertain significance Single submitter
- GSR p.Met450Arg Uncertain significance Single submitter
- GSR p.Met465Val Uncertain significance Single submitter
- GSR p.Met497Thr Uncertain significance Single submitter
- GSR p.Phe23Leu Uncertain significance Single submitter
- GSR p.Phe23Val Uncertain significance Single submitter
- GSR p.Phe504Leu Uncertain significance Single submitter
-
GSR p.Pro109Ser
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Pro132Leu
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Pro204Leu Uncertain significance Single submitter
- GSR p.Pro318Ser Uncertain significance Single submitter
- GSR p.Pro324Leu Uncertain significance Single submitter
-
GSR p.Pro337Leu
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Pro419Leu
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Pro449Leu Uncertain significance Single submitter
- GSR p.Pro50Gln Uncertain significance Single submitter
-
GSR p.Pro55Leu
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Ser293Thr
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Ser303Leu Uncertain significance Single submitter
- GSR p.Ser343Arg Uncertain significance Single submitter
-
GSR p.Ser446Arg
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Thr206Pro Uncertain significance Single submitter
- GSR p.Thr321Ile Uncertain significance Single submitter
-
GSR p.Val103Met
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Val235Ile Uncertain significance Single submitter
- GSR p.Val237Ile Uncertain significance Single submitter
- GSR p.Val244Glu Uncertain significance Single submitter
- GSR p.Val336Leu Uncertain significance Single submitter
-
GSR p.Val359Ile
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
Predictors split 24
The independent predictors disagree with each other — read with care.
- GSR p.Ala252Asp Uncertain significance Multiple submitters
-
GSR p.Arg233Cys
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Leu227Val
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Pro420Ala
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Val287Met
Uncertain significance
Multiple submitters
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Ala453Val
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Ala84Thr Conflicting Single submitter
- GSR p.Arg153His Uncertain significance Single submitter
-
GSR p.Glu145Lys
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Glu185Gly Uncertain significance Single submitter
-
GSR p.Glu361Lys
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Leu8Gln Uncertain significance Single submitter
-
GSR p.Met487Ile
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Pro420Thr Uncertain significance Single submitter
- GSR p.Ser216Arg Uncertain significance Single submitter
-
GSR p.Ser272Leu
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Ser293Phe Uncertain significance Single submitter
- GSR p.Ser79Gly Uncertain significance Single submitter
- GSR p.Thr200Pro Uncertain significance Single submitter
- GSR p.Thr423Ala Uncertain significance Single submitter
-
GSR p.Thr500Met
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
-
GSR p.Tyr451His
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
- GSR p.Val367Phe Uncertain significance Single submitter
-
GSR p.Val62Met
Uncertain significance
Single submitter
hemolytic anemia due to glutathione reductase deficiency
All GSR variants
Pathogenic 4
- c.640+1del Single submitter
- c.1286-229_*499del No assertion criteria hemolytic anemia due to glutathione reductase deficiency
- p.Gly374Ala No assertion criteria hemolytic anemia due to glutathione reductase deficiency
- p.Trp331Ter No assertion criteria hemolytic anemia due to glutathione reductase deficiency
Likely pathogenic 3
- p.Ala10fs Single submitter hemolytic anemia due to glutathione reductase deficiency
- p.Gly214Ser Single submitter hemolytic anemia due to glutathione reductase deficiency
- p.Met113_Trp114insTer Single submitter hemolytic anemia due to glutathione reductase deficiency
Conflicting classifications of pathogenicity 10
- c.493-18T>G Single submitter hemolytic anemia due to glutathione reductase deficiency
- c.882+6G>A Single submitter
- p.Ala199Thr Single submitter ⚠
- p.Ala84Thr Single submitter ⚠
- p.Arg141Cys Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Cys102= Single submitter hemolytic anemia due to glutathione reductase deficiency
- p.Glu32Ter Single submitter hemolytic anemia due to glutathione reductase deficiency
- p.Gly232Ser Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Gly315Ser Single submitter ⚠
- p.Val289Ala Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
Benign 30
- c.1041+42A>G Multiple submitters
- c.1042-199G>A Multiple submitters
- c.1154-45A>C Multiple submitters
- c.306+103G>C Multiple submitters
- c.306+124C>T Multiple submitters
- c.307-47G>A Multiple submitters
- c.334-109G>A Multiple submitters
- c.334-4dup Multiple submitters hemolytic anemia due to glutathione reductase deficiency
- c.334-5del Multiple submitters
- c.493-130G>A Multiple submitters
- c.696-10C>T Multiple submitters hemolytic anemia due to glutathione reductase deficiency
- c.883-130C>G Multiple submitters
- p.Ala63= Multiple submitters hemolytic anemia due to glutathione reductase deficiency
- p.Arg153Cys Multiple submitters hemolytic anemia due to glutathione reductase deficiency
- p.Gly87= Multiple submitters hemolytic anemia due to glutathione reductase deficiency
- p.Ser15Gly Multiple submitters hemolytic anemia due to glutathione reductase deficiency
- c.1042-219C>T Single submitter
- c.1153+320_1153+321dup Single submitter
- c.1153+320dup Single submitter
- c.1420-146G>T Single submitter
- c.1420-38del Single submitter
- c.1420-39_1420-38del Single submitter
- c.306+165G>A Single submitter
- c.307-221G>A Single submitter
- c.307-222C>T Single submitter
- c.307-5del Single submitter
- c.307-5dup Single submitter
- c.423-226T>C Single submitter
- c.423-236C>T Single submitter
- c.423-287G>A Single submitter
Benign/Likely benign 10
- c.334-5T>A Multiple submitters
- c.334-6_334-5del Multiple submitters
- p.Ala20Val Multiple submitters hemolytic anemia due to glutathione reductase deficiency
- p.Arg171His Multiple submitters
- p.Asn366= Multiple submitters
- p.Asn439= Multiple submitters
- p.Ile357Val Multiple submitters hemolytic anemia due to glutathione reductase deficiency
- p.Pro14Gln Multiple submitters hemolytic anemia due to glutathione reductase deficiency
- p.Thr177= Multiple submitters
- p.Thr500= Multiple submitters hemolytic anemia due to glutathione reductase deficiency
Likely benign 49
- c.1420-13C>A Multiple submitters hemolytic anemia due to glutathione reductase deficiency
- c.1420-19G>A Multiple submitters hemolytic anemia due to glutathione reductase deficiency
- p.Pro33= Multiple submitters hemolytic anemia due to glutathione reductase deficiency
- c.1285+15A>G Single submitter
- c.1285+7A>G Single submitter
- c.1286-8C>G Single submitter
- c.1419+20A>G Single submitter
- c.306+13G>A Single submitter
- c.306+14G>C Single submitter
- c.306+8C>T Single submitter
- c.333+18C>A Single submitter hemolytic anemia due to glutathione reductase deficiency
- c.334-18T>A Single submitter
- c.334-4A>T Single submitter
- c.334-5dup Single submitter
- c.334-6T>A Single submitter
- c.492+8dup Single submitter
- c.492+9G>A Single submitter
- c.641-4A>G Single submitter
- c.695+7C>T Single submitter
- c.696-7G>A Single submitter
- c.796-3C>G Single submitter
- c.883-5A>C Single submitter
- p.Ala12= Single submitter
- p.Ala285= Single submitter
- p.Ala372= Single submitter
- p.Ala58Ser Single submitter hemolytic anemia due to glutathione reductase deficiency
- p.Arg89= Single submitter
- p.Asn284= Single submitter
- p.Asp360= Single submitter
- p.Glu288= Single submitter
- p.Gly201= Single submitter
- p.His208Gln Single submitter
- p.His452= Single submitter
- p.Ile196= Single submitter hemolytic anemia due to glutathione reductase deficiency
- p.Ile358= Single submitter
- p.Leu4= Single submitter
- p.Lys354= Single submitter
- p.Pro204= Single submitter
- p.Pro213= Single submitter
- p.Pro231= Single submitter
- p.Pro318= Single submitter
- p.Pro420= Single submitter
- p.Pro5Ser Single submitter hemolytic anemia due to glutathione reductase deficiency
- p.Ser234= Single submitter
- p.Thr427= Single submitter
- p.Val103= Single submitter hemolytic anemia due to glutathione reductase deficiency
- c.1041+10C>A No assertion criteria GSR-related disorder
- c.334-7_334-5del No assertion criteria GSR-related disorder
- c.334-8_334-5del No assertion criteria GSR-related disorder
Uncertain significance 125
- p.Ala252Asp Multiple submitters ⚠
- p.Ala7Ser Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Arg147Gly Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Arg147Trp Multiple submitters GSR-related disorder ⚠
- p.Arg171Leu Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Arg233Cys Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Arg233His Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Arg522His Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Cys102Trp Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Gln159Leu Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Ile143Thr Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Ile421Val Multiple submitters ⚠
- p.Leu227Val Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Lys111Gln Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Pro231Ala Multiple submitters ⚠
- p.Pro420Ala Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Ser293Cys Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Thr163Ile Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Thr279Met Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Thr445Met Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Trp16Leu Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Val287Met Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Val373Ile Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Val373Leu Multiple submitters hemolytic anemia due to glutathione reductase deficiency ⚠
- c.1285+25A>T Single submitter
- c.422+3_422+6del Single submitter
- c.-100T>C Single submitter
- c.-67C>T Single submitter
- p.Ala127Val Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Ala34Thr Single submitter ⚠
- p.Ala39Thr Single submitter ⚠
- p.Ala453Val Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Ala509Thr Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Ala61Ser Single submitter ⚠
- p.Ala84_Glu85insGlyLeuAlaSerAlaArgArgAlaAla Single submitter hemolytic anemia due to glutathione reductase deficiency
- p.Arg147Gln Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Arg153His Single submitter ⚠
- p.Arg17Gln Single submitter ⚠
- p.Arg233Leu Single submitter hemolytic anemia due to glutathione reductase deficiency
- p.Arg24Gln Single submitter ⚠
- p.Arg262Gln Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Arg391Ter Single submitter hemolytic anemia due to glutathione reductase deficiency
- p.Arg6Gln Single submitter ⚠
- p.Asn277Thr Single submitter ⚠
- p.Asn410fs Single submitter hemolytic anemia due to glutathione reductase deficiency
- p.Asp222Asn Single submitter
- p.Asp341Glu Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Asp352Asn Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Asp503His Single submitter ⚠
- p.Asp66Asn Single submitter
- p.Cys102Ser Single submitter ⚠
- p.Cys134Tyr Single submitter ⚠
- p.Glu145Lys Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Glu185Asp Single submitter ⚠
- p.Glu185Gly Single submitter ⚠
- p.Glu361Lys Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Glu399Ala Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Glu85Asp Single submitter ⚠
- p.Gly188Arg Single submitter ⚠
- p.Gly25Ser Single submitter ⚠
- p.Gly348Arg Single submitter ⚠
- p.Gly369Asp Single submitter ⚠
- p.Gly498Val Single submitter ⚠
- p.Gly71Arg Single submitter ⚠
- p.Gly73Cys Single submitter ⚠
- p.His124= Single submitter hemolytic anemia due to glutathione reductase deficiency
- p.His166Arg Single submitter ⚠
- p.His173Leu Single submitter ⚠
- p.Ile184Thr Single submitter
- p.Ile198Met Single submitter
- p.Ile242Thr Single submitter ⚠
- p.Ile242Val Single submitter ⚠
- p.Ile261Val Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Ile323Leu Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Ile333Thr Single submitter ⚠
- p.Ile432Val Single submitter ⚠
- p.Leu28Pro Single submitter ⚠
- p.Leu329Gln Single submitter ⚠
- p.Leu330Pro Single submitter ⚠
- p.Leu393Phe Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Leu8Gln Single submitter ⚠
- p.Lys354Glu Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Lys496Gln Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Lys97Arg Single submitter ⚠
- p.Met450Arg Single submitter ⚠
- p.Met465Val Single submitter ⚠
- p.Met487Ile Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Met497Thr Single submitter ⚠
- p.Phe23Leu Single submitter ⚠
- p.Phe23Val Single submitter ⚠
- p.Phe504Leu Single submitter ⚠
- p.Pro109Ser Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Pro132Leu Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Pro204Leu Single submitter ⚠
- p.Pro318Ser Single submitter ⚠
- p.Pro324Leu Single submitter ⚠
- p.Pro337Leu Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Pro337Ser Single submitter
- p.Pro419Leu Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Pro420Thr Single submitter ⚠
- p.Pro449Leu Single submitter ⚠
- p.Pro50Gln Single submitter ⚠
- p.Pro55Leu Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Ser216Arg Single submitter ⚠
- p.Ser272Leu Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Ser293Phe Single submitter ⚠
- p.Ser293Thr Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Ser303Leu Single submitter ⚠
- p.Ser343Arg Single submitter ⚠
- p.Ser446Arg Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Ser79Gly Single submitter ⚠
- p.Thr200Pro Single submitter ⚠
- p.Thr206Pro Single submitter ⚠
- p.Thr321Ile Single submitter ⚠
- p.Thr423Ala Single submitter ⚠
- p.Thr500Met Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Tyr451His Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Val103Met Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Val235Ile Single submitter ⚠
- p.Val237Ile Single submitter ⚠
- p.Val244Glu Single submitter ⚠
- p.Val336Leu Single submitter ⚠
- p.Val359Ile Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠
- p.Val367Phe Single submitter ⚠
- p.Val62Met Single submitter hemolytic anemia due to glutathione reductase deficiency ⚠