DUOXA1 — 56 ClinVar variants
All ClinVar germline DUOXA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Benign · 10 Likely benign · 45 Uncertain significance
Full DUOXA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 lean, ClinVar uncertain 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DUOXA1 c.*1325G>T Uncertain significance Single submitter
- DUOXA1 p.Ala158Asp Uncertain significance Single submitter
- DUOXA1 p.Ala212Thr Uncertain significance Single submitter
- DUOXA1 p.Arg171His Uncertain significance Single submitter
- DUOXA1 p.Arg306Cys Uncertain significance Single submitter
- DUOXA1 p.Asp152Glu Uncertain significance Single submitter
- DUOXA1 p.Asp290Glu Uncertain significance Single submitter
- DUOXA1 p.Cys167Arg Uncertain significance Single submitter
- DUOXA1 p.Gln317His Uncertain significance Single submitter
- DUOXA1 p.Glu147Lys Uncertain significance Single submitter
- DUOXA1 p.Glu298Lys Uncertain significance Single submitter
- DUOXA1 p.Gly104Arg Uncertain significance Single submitter
- DUOXA1 p.Gly248Arg Uncertain significance Single submitter
- DUOXA1 p.Gly300Ser Uncertain significance Single submitter
- DUOXA1 p.Ile67Leu Uncertain significance Single submitter
- DUOXA1 p.Leu198Phe Uncertain significance Single submitter
- DUOXA1 p.Leu210Pro Uncertain significance Single submitter
- DUOXA1 p.Lys280Glu Uncertain significance Single submitter
- DUOXA1 p.Met20Ile Uncertain significance Single submitter
- DUOXA1 p.Met226Ile Uncertain significance Single submitter
- DUOXA1 p.Pro163Leu Uncertain significance Single submitter
- DUOXA1 p.Pro305Thr Uncertain significance Single submitter
- DUOXA1 p.Pro314Thr Uncertain significance Single submitter
- DUOXA1 p.Pro320Arg Uncertain significance Single submitter
- DUOXA1 p.Thr22Ala Uncertain significance Single submitter
- DUOXA1 p.Trp53Arg Uncertain significance Single submitter
- DUOXA1 p.Tyr307His Uncertain significance Single submitter
- DUOXA1 p.Tyr307Phe Uncertain significance Single submitter
- DUOXA1 p.Val262Leu Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- DUOXA1 p.Ala250Thr Uncertain significance Single submitter
- DUOXA1 p.Ala250Val Uncertain significance Single submitter
- DUOXA1 p.Arg46Gln Uncertain significance Single submitter
- DUOXA1 p.Arg46Trp Uncertain significance Single submitter
- DUOXA1 p.Gly47Arg Uncertain significance Single submitter
- DUOXA1 p.Ile41Thr Uncertain significance Single submitter
- DUOXA1 p.Ile99Thr Uncertain significance Single submitter
- DUOXA1 p.Leu255Met Uncertain significance Single submitter
- DUOXA1 p.Met200Ile Uncertain significance Single submitter
- DUOXA1 p.Phe38Leu Uncertain significance Single submitter
- DUOXA1 p.Ser26Asn Uncertain significance Single submitter
- DUOXA1 p.Thr213Met Likely benign Single submitter
- DUOXA1 p.Trp252Ser Uncertain significance Single submitter
All DUOXA1 variants
Benign 1
- p.Arg133Leu Multiple submitters
Likely benign 10
- p.Arg133Cys Multiple submitters
- c.*1116T>G Single submitter
- p.Ala240Thr Single submitter
- p.Ala269Val Single submitter
- p.Arg133His Single submitter
- p.Arg174His Single submitter
- p.His247Arg Single submitter
- p.Thr213Met Single submitter ⚠
- p.Thr49Met Single submitter
- p.Val40Ile Single submitter
Uncertain significance 45
- c.*1067C>A Single submitter
- c.*1200C>A Single submitter
- c.*1325G>T Single submitter ⚠
- c.*1377G>C Single submitter
- c.*1446C>T Single submitter
- p.Ala158Asp Single submitter ⚠
- p.Ala212Thr Single submitter ⚠
- p.Ala250Thr Single submitter ⚠
- p.Ala250Val Single submitter ⚠
- p.Arg171His Single submitter ⚠
- p.Arg306Cys Single submitter ⚠
- p.Arg46Gln Single submitter ⚠
- p.Arg46Trp Single submitter ⚠
- p.Asp152Glu Single submitter ⚠
- p.Asp290Glu Single submitter ⚠
- p.Cys167Arg Single submitter ⚠
- p.Gln317His Single submitter ⚠
- p.Glu147Lys Single submitter ⚠
- p.Glu298Lys Single submitter ⚠
- p.Gly104Arg Single submitter ⚠
- p.Gly248Arg Single submitter ⚠
- p.Gly300Ser Single submitter ⚠
- p.Gly47Arg Single submitter ⚠
- p.Ile41Thr Single submitter ⚠
- p.Ile67Leu Single submitter ⚠
- p.Ile99Thr Single submitter ⚠
- p.Leu198Phe Single submitter ⚠
- p.Leu210Pro Single submitter ⚠
- p.Leu255Met Single submitter ⚠
- p.Lys280Glu Single submitter ⚠
- p.Met200Ile Single submitter ⚠
- p.Met20Ile Single submitter ⚠
- p.Met226Ile Single submitter ⚠
- p.Phe38Leu Single submitter ⚠
- p.Pro163Leu Single submitter ⚠
- p.Pro305Thr Single submitter ⚠
- p.Pro314Thr Single submitter ⚠
- p.Pro320Arg Single submitter ⚠
- p.Ser26Asn Single submitter ⚠
- p.Thr22Ala Single submitter ⚠
- p.Trp252Ser Single submitter ⚠
- p.Trp53Arg Single submitter ⚠
- p.Tyr307His Single submitter ⚠
- p.Tyr307Phe Single submitter ⚠
- p.Val262Leu Single submitter ⚠