HOGA1 (Q86XE5) variants and mutations
HOGA1 (also known as Q86XE5) is a human protein-coding gene encoding a 4-hydroxy-2-oxoglutarate aldolase, mitochondrial protein. It catalyzes the final step of hydroxyproline breakdown in mitochondria, splitting 4-hydroxy-2-oxoglutarate into glyoxylate and pyruvate. Biallelic loss of function causes primary hyperoxaluria type 3, which can lead to excess urinary oxalate and recurrent calcium oxalate kidney stones. This analysis covers 648 HOGA1 variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes primary hyperoxaluria type 3, primary hyperoxaluria, and Hyperoxaluria. Example HOGA1 variants include M1I, M1R, and L2M.
Variant analysis overview
- Gene: HOGA1
- Protein: Q86XE5
- UniProt accession: Q86XE5
- Organism: Homo sapiens
- Variants analyzed: 648
- Variant scope: all variants
- Completed: 2026-10-19
Variant and mutation evidence
- Variant composition: 453 unspecified-consequence records; 95 missense variants; 96 synonymous variants; 1 stop-gained variants; 13 frameshift variants; 3 in-frame deletions; 4 splice-region variants; 1 in-frame insertions; 2 substitution
- Prediction scores: 634 variants have prediction scores (98% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: primary hyperoxaluria type 3, primary hyperoxaluria, Hyperoxaluria, neurodegenerative disease, glycogen storage disease due to muscle and heart glycogen synthase deficiency, hereditary disease, placental abruption, Paraproteinemia, aneurysm, nonpapillary renal cell carcinoma, neoplasm, gallbladder disease 1.
Protein structure and variant hotspots
- Protein features: 3 binding sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Diseases linked to HOGA1
Notable HOGA1 variants
Examples include M1I, M1R, L2M, L2V, L2P, G3V, G3A, G3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs2135711169, ClinGen CA377966862, ClinVar RCV002000036, ClinGen CA377966857, ESM-1b 1.00, AlphaMissense 0.24, Pathogenic, Primary hyperoxaluria type 3
- M1R (p.Met1Arg), rs529940373, ClinGen CA5633804, ClinVar RCV001870848, ClinVar RCV006639026, REVEL 0.73, ESM-1b 0.94, Pathogenic/Likely pathogenic, not provided; Primary hyperoxaluria type 3
- L2M (p.Leu2Met), ESP rs375261073, ExAC rs375261073, TOPMed rs375261073, gnomAD rs375261073, REVEL 0.24, ESM-1b 0.08
- L2V (p.Leu2Val), rs375261073, ESP rs375261073, ExAC rs375261073, TOPMed rs375261073, REVEL 0.20, ESM-1b 0.29, Variant assessed as somatic; moderate impact.
- L2P (p.Leu2Pro), gnomAD 10-97584708-T-C, REVEL 0.53, ESM-1b 0.52
- G3V (p.Gly3Val), TOPMed rs1330015014, gnomAD rs1330015014, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- G3A (p.Gly3Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G3R (p.Gly3Arg), gnomAD 10-97584710-G-C, REVEL 0.29, ESM-1b 0.00
- P4H (p.Pro4His), ExAC rs756272372, TOPMed rs756272372, gnomAD rs756272372, REVEL 0.15, ESM-1b 0.00
- P4L (p.Pro4Leu), ExAC rs756272372, TOPMed rs756272372, gnomAD rs756272372, REVEL 0.15, ESM-1b 0.00
- P4S (p.Pro4Ser), gnomAD rs1379254611, REVEL 0.14, ESM-1b 0.00
- Q5Q (p.Gln5Gln), rs1310105742, gnomAD 10-97584718-A-G, CADD 7.10
- V6L (p.Val6Leu), gnomAD 10-97584719-G-C, REVEL 0.10, ESM-1b 0.00
- V6V (p.Val6Val), rs1589899135, gnomAD 10-97584721-C-T, CADD 6.25
- W7* (p.Trp7Ter), 1000Genomes rs116731711, ExAC rs116731711, TOPMed rs116731711, gnomAD rs116731711, Uncertain significance
- W7S (p.Trp7Ser), rs116731711, ClinGen CA5633808, ClinVar RCV003447344, ClinVar RCV005100098, REVEL 0.34, ESM-1b 0.00, Uncertain significance, not provided; Primary hyperoxaluria type 3
- W7L (p.Trp7Leu), gnomAD 10-97584723-G-T, REVEL 0.25, ESM-1b 0.00
- S9F (p.Ser9Phe), ExAC rs757262365, gnomAD rs757262365, REVEL 0.18, ESM-1b 0.00
- V10A (p.Val10Ala), gnomAD rs1313412762, REVEL 0.17, ESM-1b 0.00
- V10M (p.Val10Met), cosmic curated COSV99037, TOPMed rs1227503188, gnomAD rs1227503188, REVEL 0.19, ESM-1b 0.38, Uncertain significance, Primary hyperoxaluria type 3
- V10E (p.Val10Glu), gnomAD 10-97584732-T-A, REVEL 0.29, ESM-1b 1.00
- R11S (p.Arg11Ser), rs778696295, ClinGen CA5633810, ClinVar RCV001243384, ClinVar RCV001829028, REVEL 0.20, ESM-1b 0.00, Uncertain significance, Primary hyperoxaluria type 3; Inborn genetic diseases; not provided
- Q12* (p.Gln12Ter), gnomAD 10-97584737-C-T, CADD 38.00
- Q12Q (p.Gln12Gln), gnomAD 10-97584739-G-A, CADD 2.34
- G13A (p.Gly13Ala), gnomAD rs1056874645, REVEL 0.27, ESM-1b 0.00, Uncertain significance
- G13E (p.Gly13Glu), gnomAD rs1056874645, REVEL 0.27, ESM-1b 0.76, Uncertain significance
- G13R (p.Gly13Arg), gnomAD rs2040952744, REVEL 0.18, ESM-1b 0.00
- G13V (p.Gly13Val), gnomAD rs1056874645, REVEL 0.45, ESM-1b 0.00, Uncertain significance, Primary hyperoxaluria type 3
- G13G (p.Gly13Gly), rs200127255, gnomAD 10-97584742-G-T, CADD 1.21
- L14Q (p.Leu14Gln), rs771766335, ClinGen CA5633812, ClinVar RCV003447352, ExAC rs771766335, REVEL 0.41, ESM-1b 1.00, Uncertain significance, Primary hyperoxaluria type 3
- L14L (p.Leu14Leu), rs2135711242, gnomAD 10-97584745-A-G, CADD 5.39
- S15R (p.Ser15Arg), TOPMed rs1446922115, gnomAD rs1446922115, REVEL 0.20, ESM-1b 0.00
- R16G (p.Arg16Gly), gnomAD rs1258044701, REVEL 0.22, ESM-1b 0.00
- R16S (p.Arg16Ser), Ensembl rs1276007639, REVEL 0.26, ESM-1b 0.00
- S17N (p.Ser17Asn), ExAC rs779935047, gnomAD rs779935047, REVEL 0.21, ESM-1b 0.00
- S17R (p.Ser17Arg), gnomAD 10-97584754-C-G, REVEL 0.31, ESM-1b 0.00
- S17S (p.Ser17Ser), rs746712236, gnomAD 10-97584754-C-T, CADD 5.40
- S19C (p.Ser19Cys), ExAC rs768415273, TOPMed rs768415273, gnomAD rs768415273, REVEL 0.18, ESM-1b 0.00
- S19P (p.Ser19Pro), rs1324524629, TOPMed rs1324524629, REVEL 0.19, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- S19S (p.Ser19Ser), rs776736742, gnomAD 10-97584760-C-T, CADD 4.02
- R20W (p.Arg20Trp), Ensembl rs1564753605, REVEL 0.55, ESM-1b 0.45
- R20K (p.Arg20Lys), gnomAD 10-97584762-G-A, REVEL 0.19, ESM-1b 0.34
- R20R (p.Arg20Arg), rs776319977, gnomAD 10-97584763-G-A, CADD 5.64
- N21Y (p.Asn21Tyr), ExAC rs747588198, gnomAD rs747588198, REVEL 0.21, ESM-1b 0.00, Uncertain significance, Primary hyperoxaluria type 3
- N21S (p.Asn21Ser), gnomAD 10-97584765-A-G, REVEL 0.13, ESM-1b 0.00
- V22M (p.Val22Met), rs1425518232, ClinGen CA377967169, ClinVar RCV001043058, ClinVar RCV001827260, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not provided
- V22V (p.Val22Val), rs1463926874, gnomAD 10-97584769-G-T, CADD 1.35
- G23R (p.Gly23Arg), Ensembl rs2040953333, REVEL 0.09, ESM-1b 0.00
- G23A (p.Gly23Ala), gnomAD 10-97584771-G-C, REVEL 0.11, ESM-1b 0.00
- G23E (p.Gly23Glu), gnomAD 10-97584771-G-A, REVEL 0.11, ESM-1b 0.10
- G23V (p.Gly23Val), gnomAD 10-97584771-G-T, REVEL 0.08, ESM-1b 0.00
- G23G (p.Gly23Gly), gnomAD 10-97584772-G-A, CADD 5.61
- V24G (p.Val24Gly), gnomAD rs1359719625, REVEL 0.18, ESM-1b 0.00
- V24L (p.Val24Leu), ESP rs368335660, ExAC rs368335660, TOPMed rs368335660, gnomAD rs368335660, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Primary hyperoxaluria type 3
- V24V (p.Val24Val), gnomAD 10-97584775-C-T, CADD 4.01
- W25* (p.Trp25Ter), rs1267512916, ClinGen CA377967210, ClinVar RCV001052697, gnomAD rs1267512916, CADD 35.00, Pathogenic
- A26T (p.Ala26Thr), ExAC rs774752851, TOPMed rs774752851, gnomAD rs774752851, REVEL 0.21, ESM-1b 0.00
- A26V (p.Ala26Val), ExAC rs760024469, gnomAD rs760024469, REVEL 0.15, ESM-1b 0.00
- S27L (p.Ser27Leu), rs767786474, ClinGen CA5633821, ClinVar RCV002704503, ExAC rs767786474, REVEL 0.26, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- S27S (p.Ser27Ser), rs775819365, gnomAD 10-97584784-A-G, CADD 9.16
- G28R (p.Gly28Arg), ExAC rs760958174, gnomAD rs760958174, REVEL 0.44, ESM-1b 0.00
- G28G (p.Gly28Gly), rs1347725879, gnomAD 10-97584787-G-A, CADD 9.80
- E29* (p.Glu29Ter), rs764274149, ClinGen CA377967226, ClinVar RCV003447361, MetaLR 0.57, MetaSVM -0.55, Pathogenic
- E29D (p.Glu29Asp), TOPMed rs1453912951, gnomAD rs1453912951, REVEL 0.25, ESM-1b 0.00
- E29K (p.Glu29Lys), ExAC rs764274149, gnomAD rs764274149, REVEL 0.22, ESM-1b 0.00, Pathogenic
- E29G (p.Glu29Gly), gnomAD 10-97584783-CAG-C, CADD 25.20
- E29E (p.Glu29Glu), rs1453912951, gnomAD 10-97584790-G-A, CADD 6.95
- G30E (p.Gly30Glu), ExAC rs759795758, TOPMed rs759795758, gnomAD rs759795758, REVEL 0.39, ESM-1b 0.00, Uncertain significance
- G30R (p.Gly30Arg), rs753970733, ClinGen CA5633825, cosmic curated COSV53967, ClinVar RCV004399858, REVEL 0.23, ESM-1b 0.00, Uncertain significance, Inborn genetic diseases
- G30V (p.Gly30Val), rs759795758, ClinGen CA5633827, ClinVar RCV002714301, ClinVar RCV005051250, REVEL 0.43, ESM-1b 0.00, Uncertain significance, Primary hyperoxaluria type 3; not provided; Inborn genetic diseases
- G30G (p.Gly30Gly), rs1564753639, gnomAD 10-97584793-G-A, CADD 11.30
- K31R (p.Lys31Arg), gnomAD 10-97584795-A-G, REVEL 0.28, ESM-1b 0.00
- K32del (p.Lys32del), rs750736378, gnomAD 10-97584792-GGAA-, CADD 18.60
- K32K (p.Lys32Lys), rs2135711307, gnomAD 10-97584799-G-A, CADD 10.70
- V33W (p.Val33Trp), rs1204352693, gnomAD 10-97584798-AG-A, CADD 25.60
- D34G (p.Asp34Gly), ExAC rs750339099, gnomAD rs750339099, REVEL 0.48, ESM-1b 1.00
- I35N (p.Ile35Asn), gnomAD rs1254351374, REVEL 0.56, ESM-1b 1.00
- I35T (p.Ile35Thr), gnomAD rs1254351374, REVEL 0.56, ESM-1b 1.00
- I35V (p.Ile35Val), rs758339645, ClinGen CA5633831, ClinVar RCV003447369, ExAC rs758339645, REVEL 0.18, ESM-1b 0.00, Uncertain significance, Primary hyperoxaluria type 3
- A36E (p.Ala36Glu), ExAC rs201803986, TOPMed rs201803986, gnomAD rs201803986, REVEL 0.27, ESM-1b 0.00, Pathogenic
- A36S (p.Ala36Ser), ExAC rs573292460, TOPMed rs573292460, gnomAD rs573292460, REVEL 0.17, ESM-1b 0.00, Uncertain significance
- A36T (p.Ala36Thr), rs573292460, ClinGen CA5633832, cosmic curated COSV10008, ClinVar RCV000415756, REVEL 0.13, ESM-1b 0.00, Uncertain significance, Primary hyperoxaluria type 3; Inborn genetic diseases; not provided
- A36V (p.Ala36Val), rs201803986, ClinGen CA203936, cosmic curated COSV53967, ClinVar RCV000186472, REVEL 0.48, ESM-1b 0.32, Conflicting interpretations, HOGA1-related disorder; not provided; Primary hyperoxaluria type 3
- A36A (p.Ala36Ala), rs747795341, gnomAD 10-97584811-G-A, CADD 1.02
- G37D (p.Gly37Asp), rs772722925, ClinGen CA377967274, ClinVar RCV003447373, ExAC rs772722925, REVEL 0.86, ESM-1b 1.00, Pathogenic/Likely pathogenic, Primary hyperoxaluria type 3
- G37R (p.Gly37Arg), ExAC rs769193078, TOPMed rs769193078, gnomAD rs769193078, REVEL 0.82, ESM-1b 1.00
- G37V (p.Gly37Val), rs772722925, ClinGen CA5633837, cosmic curated COSV53969, ClinVar RCV000670604, REVEL 0.88, ESM-1b 1.00, Likely pathogenic, Primary hyperoxaluria type 3
- G37S (p.Gly37Ser), gnomAD 10-97584812-G-A, REVEL 0.80, ESM-1b 1.00
- G37G (p.Gly37Gly), rs2135711333, gnomAD 10-97584814-T-C, CADD 9.95
- I38V (p.Ile38Val), TOPMed rs2040954266, REVEL 0.59, ESM-1b 0.00
- Y39* (p.Tyr39Ter), rs746419489, ClinGen CA203942, ClinVar RCV000186475, ClinVar RCV001069053, CADD 36.00, Pathogenic
- Y39S (p.Tyr39Ser), Ensembl rs1589899287, REVEL 0.77, ESM-1b 1.00
- Y39Y (p.Tyr39Tyr), rs746419489, gnomAD 10-97584820-C-T, CADD 8.09
- P40A (p.Pro40Ala), 1000Genomes rs202016288, REVEL 0.63, ESM-1b 0.00
- P40H (p.Pro40His), rs1173270983, ClinGen CA377967292, ClinVar RCV001840929, TOPMed rs1173270983, REVEL 0.79, ESM-1b 1.00, Uncertain significance, not provided
- P40L (p.Pro40Leu), cosmic curated COSV53968, TOPMed rs1173270983, gnomAD rs1173270983, REVEL 0.76, ESM-1b 0.14, Uncertain significance
- P40T (p.Pro40Thr), gnomAD 10-97584821-C-A, REVEL 0.69, ESM-1b 0.10
- P40P (p.Pro40Pro), gnomAD 10-97584823-C-T, CADD 8.19
- P41T (p.Pro41Thr), gnomAD rs1358074741, REVEL 0.82, ESM-1b 1.00
- P41L (p.Pro41Leu), gnomAD 10-97584825-C-T, REVEL 0.87, ESM-1b 1.00
- P41P (p.Pro41Pro), rs1299629192, gnomAD 10-97584826-T-C, CADD 7.39
- V42C (p.Val42Cys), rs1425736036, gnomAD 10-97584819-A-AC, CADD 28.30
- V42* (p.Val42Ter), rs1419840309, gnomAD 10-97584825-CT-C, CADD 17.70
- T43G (p.Thr43Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T43P (p.Thr43Pro), Ensembl rs1589899311, REVEL 0.43, ESM-1b 0.66
- T43I (p.Thr43Ile), gnomAD 10-97584831-C-T, REVEL 0.38, ESM-1b 1.00
- T43T (p.Thr43Thr), rs772564071, gnomAD 10-97584832-C-T, CADD 9.49
- T44I (p.Thr44Ile), ExAC rs775876371, gnomAD rs775876371, REVEL 0.85, ESM-1b 1.00, Uncertain significance, Primary hyperoxaluria type 3
- T44P (p.Thr44Pro), Ensembl rs1589899319, REVEL 0.84, ESM-1b 1.00
- T44S (p.Thr44Ser), gnomAD 10-97584833-A-T, REVEL 0.74, ESM-1b 1.00
- T44T (p.Thr44Thr), rs761009383, gnomAD 10-97584835-C-T, CADD 12.40
- P45A (p.Pro45Ala), rs1380918472, ClinGen CA377967319, ClinVar RCV001277805, ClinVar RCV003770420, REVEL 0.87, ESM-1b 1.00, Likely pathogenic, not provided
- P45L (p.Pro45Leu), rs764396564, ClinGen CA203938, ClinVar RCV000186473, ClinVar RCV002513970, REVEL 0.87, ESM-1b 1.00, Pathogenic/Likely pathogenic, Primary hyperoxaluria type 3; not provided
- P45R (p.Pro45Arg), rs764396564, ClinGen CA377967322, ClinVar RCV001102571, ClinVar RCV003718319, REVEL 0.91, ESM-1b 1.00, Conflicting interpretations, Primary hyperoxaluria type 3; not provided
- P45P (p.Pro45Pro), gnomAD 10-97584838-C-T, CADD 6.02
- F46V (p.Phe46Val), gnomAD 10-97584839-T-G, REVEL 0.85, ESM-1b 1.00
- T47A (p.Thr47Ala), TOPMed rs1221444661, gnomAD rs1221444661, REVEL 0.36, ESM-1b 0.82, Uncertain significance
- T47P (p.Thr47Pro), rs1221444661, ClinGen CA377967331, ClinVar RCV001068879, ClinVar RCV001827454, REVEL 0.64, ESM-1b 1.00, Uncertain significance, not provided
- T47T (p.Thr47Thr), gnomAD 10-97584844-T-C, CADD 6.79
- A48D (p.Ala48Asp), gnomAD 10-97584846-C-A, REVEL 0.27, ESM-1b 0.00
- A48V (p.Ala48Val), gnomAD 10-97584846-C-T, REVEL 0.29, ESM-1b 1.00
- T49I (p.Thr49Ile), gnomAD rs1299906291, REVEL 0.33, ESM-1b 1.00
- T49S (p.Thr49Ser), gnomAD rs2040954893, REVEL 0.23, ESM-1b 0.00
- T49A (p.Thr49Ala), gnomAD 10-97584848-A-G, REVEL 0.27, ESM-1b 0.00
- A50T (p.Ala50Thr), gnomAD 10-97584851-G-A, REVEL 0.19, ESM-1b 0.48
- E51D (p.Glu51Asp), rs1347221993, ClinGen CA377967362, ClinVar RCV001102572, TOPMed rs1347221993, REVEL 0.31, ESM-1b 0.00, Uncertain significance, Primary hyperoxaluria type 3
- E51G (p.Glu51Gly), Ensembl rs2040954936, REVEL 0.51, ESM-1b 0.55
- E51E (p.Glu51Glu), rs1347221993, gnomAD 10-97584856-G-A, CADD 8.75
- V52A (p.Val52Ala), TOPMed rs1241020419, gnomAD rs1241020419, REVEL 0.74, ESM-1b 1.00
- V52M (p.Val52Met), TOPMed rs1471857178, gnomAD rs1471857178, REVEL 0.73, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- D53E (p.Asp53Glu), gnomAD 10-97584862-C-G, REVEL 0.58, ESM-1b 1.00
- Y54C (p.Tyr54Cys), TOPMed rs985573876, REVEL 0.80, ESM-1b 1.00
- Y54N (p.Tyr54Asn), TOPMed rs954248865, gnomAD rs954248865, REVEL 0.80, ESM-1b 1.00
- Y54S (p.Tyr54Ser), TOPMed rs985573876, REVEL 0.78, ESM-1b 1.00
- Y54Y (p.Tyr54Tyr), gnomAD 10-97584865-T-C, CADD 10.90
- G55R (p.Gly55Arg), gnomAD 10-97584866-G-A, REVEL 0.16, ESM-1b 0.00
- G55G (p.Gly55Gly), gnomAD 10-97584868-G-T, CADD 12.30
- K56R (p.Lys56Arg), gnomAD 10-97584870-A-G, REVEL 0.37, ESM-1b 0.00
- K56K (p.Lys56Lys), rs141993402, gnomAD 10-97584871-A-G, CADD 10.60
- L57P (p.Leu57Pro), Ensembl rs2040955233, REVEL 0.91, ESM-1b 1.00
- L57L (p.Leu57Leu), rs2135711410, gnomAD 10-97584872-C-T, CADD 9.60
- E58K (p.Glu58Lys), gnomAD 10-97584875-G-A, REVEL 0.38, ESM-1b 0.00
- E58E (p.Glu58Glu), rs2135711412, gnomAD 10-97584877-G-A, CADD 9.45
- E59D (p.Glu59Asp), rs1487446990, gnomAD rs1487446990, REVEL 0.22, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E59K (p.Glu59Lys), TOPMed rs1192338945, gnomAD rs1192338945, REVEL 0.44, ESM-1b 1.00
- N60K (p.Asn60Lys), gnomAD 10-97584883-T-G, REVEL 0.63, ESM-1b 1.00
- L61V (p.Leu61Val), Ensembl rs957227758, REVEL 0.30, ESM-1b 0.00
- L61P (p.Leu61Pro), gnomAD 10-97584885-T-C, REVEL 0.80, ESM-1b 1.00
- H62L (p.His62Leu), rs150812556, ClinGen CA5633842, ClinVar RCV000329496, ClinVar RCV000908631, REVEL 0.23, ESM-1b 0.00, Conflicting interpretations, Primary hyperoxaluria type 3; not provided; HOGA1-related disorder
- H62Q (p.His62Gln), Ensembl rs1265039379, REVEL 0.27, ESM-1b 0.00
- K63Q (p.Lys63Gln), TOPMed rs968208573, gnomAD rs968208573, REVEL 0.28, ESM-1b 0.00, Uncertain significance, Primary hyperoxaluria type 3
- K63N (p.Lys63Asn), rs1247079002, gnomAD 10-97584889-CA-C, CADD 27.90
- L64V (p.Leu64Val), rs1277676251, ClinGen CA377967445, ClinVar RCV003294729, REVEL 0.26, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- L64L (p.Leu64Leu), rs1277676251, gnomAD 10-97584893-C-T, CADD 5.70
- G65G (p.Gly65Gly), gnomAD 10-97584898-C-T, CADD 9.35
- T66A (p.Thr66Ala), TOPMed rs2040955655, REVEL 0.25, ESM-1b 0.00
- T66I (p.Thr66Ile), Ensembl rs1564753736, REVEL 0.21, ESM-1b 1.00
- F67C (p.Phe67Cys), rs369191992, ClinGen CA212658831, ClinVar RCV003445238, ESP rs369191992, REVEL 0.28, ESM-1b 0.00, Uncertain significance, Primary hyperoxaluria type 3
- F67L (p.Phe67Leu), ExAC rs750507401, REVEL 0.28, ESM-1b 0.00, Likely benign
- P68R (p.Pro68Arg), TOPMed rs2040955768, REVEL 0.82, ESM-1b 1.00
- P68A (p.Pro68Ala), gnomAD 10-97584905-C-G, REVEL 0.76, ESM-1b 1.00
- F69C (p.Phe69Cys), rs2540060695, ClinGen CA377967478, ClinVar RCV003447341, REVEL 0.82, ESM-1b 1.00, Likely pathogenic, Primary hyperoxaluria type 3
- F69L (p.Phe69Leu), gnomAD 10-97584910-C-G, REVEL 0.50, ESM-1b 0.00
- F69F (p.Phe69Phe), rs1345061102, gnomAD 10-97584910-C-T, CADD 10.40
- R70* (p.Arg70Ter), rs758304537, ClinGen CA203945, cosmic curated COSV53970, ClinVar RCV000186476, CADD 37.00, Pathogenic
- R70P (p.Arg70Pro), rs267606763, ClinGen CA113816, ClinVar RCV000000050, ClinVar RCV001387338, REVEL 0.69, ESM-1b 1.00, Pathogenic/Likely pathogenic, not provided; Primary hyperoxaluria type 3
- R70Q (p.Arg70Gln), rs267606763, ClinGen CA212658836, ClinVar RCV002998212, ExAC rs267606763, REVEL 0.28, ESM-1b 0.70, Uncertain significance, Inborn genetic diseases; HOGA1-related disorder
- R70R (p.Arg70Arg), gnomAD 10-97584913-A-G, CADD 22.50
- G71D (p.Gly71Asp), Ensembl rs2041090208, REVEL 0.95, ESM-1b 1.00, Likely pathogenic
- G71V (p.Gly71Val), rs2041090208, ClinGen CA377976672, ClinVar RCV003445245, REVEL 0.92, ESM-1b 1.00, Likely pathogenic, Primary hyperoxaluria type 3
- G71S (p.Gly71Ser), gnomAD 10-97584914-G-A, REVEL 0.84, ESM-1b 1.00
- G71G (p.Gly71Gly), rs751313514, gnomAD 10-97598776-C-T, CADD 11.40
- F72L (p.Phe72Leu), ExAC rs754653868, gnomAD rs754653868, REVEL 0.33, ESM-1b 0.00
- F72C (p.Phe72Cys), gnomAD 10-97598778-T-G, REVEL 0.92, ESM-1b 1.00
- F72F (p.Phe72Phe), rs780606715, gnomAD 10-97598779-C-T, CADD 8.33
- V73L (p.Val73Leu), 1000Genomes rs547692696, ExAC rs547692696, TOPMed rs547692696, gnomAD rs547692696, REVEL 0.74, ESM-1b 1.00
- V73M (p.Val73Met), 1000Genomes rs547692696, ExAC rs547692696, TOPMed rs547692696, gnomAD rs547692696, REVEL 0.90, ESM-1b 1.00
- V73V (p.Val73Val), gnomAD 10-97598782-G-A, CADD 14.10
- V74A (p.Val74Ala), rs796052084, ClinGen CA377976721, ClinVar RCV003568971, REVEL 0.81, ESM-1b 0.00, Likely pathogenic, not provided
- V74G (p.Val74Gly), rs796052084, ClinGen CA203940, ClinVar RCV000186474, ClinVar RCV001857598, REVEL 0.97, ESM-1b 1.00, Pathogenic/Likely pathogenic, Primary hyperoxaluria type 3; not provided; HOGA1-related disorders
Public HOGA1 analysis runs
- HOGA1 analysis run — HOGA1 (648 variants) — completed 2026-10-19