DUOX1 — 229 ClinVar variants
All ClinVar germline DUOX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 191 flagged for review →
12 Benign · 19 Likely benign · 198 Uncertain significance
Full DUOX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 191
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 132
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DUOX1 p.Ala1053Gly Uncertain significance Single submitter
- DUOX1 p.Ala1126Pro Uncertain significance Single submitter
- DUOX1 p.Ala204Thr Uncertain significance Single submitter
- DUOX1 p.Ala218Val Uncertain significance Single submitter
- DUOX1 p.Ala291Val Uncertain significance Single submitter
- DUOX1 p.Ala441Thr Uncertain significance Single submitter
- DUOX1 p.Ala578Val Uncertain significance Single submitter
- DUOX1 p.Ala617Val Uncertain significance Single submitter
- DUOX1 p.Ala954Thr Uncertain significance Single submitter
- DUOX1 p.Arg1214Cys Uncertain significance Single submitter
- DUOX1 p.Arg1216Cys Uncertain significance Single submitter
- DUOX1 p.Arg1291Trp Uncertain significance Single submitter
- DUOX1 p.Arg1294Trp Uncertain significance Single submitter
- DUOX1 p.Arg1437Gln Uncertain significance Single submitter
- DUOX1 p.Arg1437Pro Uncertain significance Single submitter
- DUOX1 p.Arg150Cys Uncertain significance Single submitter
- DUOX1 p.Arg1513Gln Uncertain significance Single submitter
- DUOX1 p.Arg1541Trp Uncertain significance Single submitter
- DUOX1 p.Arg190Pro Uncertain significance Single submitter
- DUOX1 p.Arg207Gly Uncertain significance Single submitter
- DUOX1 p.Arg353Gln Uncertain significance Single submitter
- DUOX1 p.Arg459Trp Uncertain significance Single submitter
- DUOX1 p.Arg533Gln Uncertain significance Single submitter
- DUOX1 p.Arg620Gln Uncertain significance Single submitter
- DUOX1 p.Arg632Cys Uncertain significance Single submitter
- DUOX1 p.Arg699His Uncertain significance Single submitter
- DUOX1 p.Arg700Cys Uncertain significance Single submitter
- DUOX1 p.Arg746Gln Uncertain significance Single submitter
- DUOX1 p.Arg838Gln Uncertain significance Single submitter
- DUOX1 p.Arg857Pro Uncertain significance Single submitter
- DUOX1 p.Arg905Trp Uncertain significance Single submitter
- DUOX1 p.Arg932Cys Uncertain significance Single submitter
- DUOX1 p.Arg932His Uncertain significance Single submitter
- DUOX1 p.Arg953Gln Uncertain significance Single submitter
- DUOX1 p.Arg95His Uncertain significance Single submitter
- DUOX1 p.Asn546Ser Uncertain significance Single submitter
- DUOX1 p.Asn690Ile Uncertain significance Single submitter
- DUOX1 p.Asn690Lys Uncertain significance Single submitter
- DUOX1 p.Asn928His Uncertain significance Single submitter
- DUOX1 p.Asp1263Asn Uncertain significance Single submitter
- DUOX1 p.Asp202Asn Uncertain significance Single submitter
- DUOX1 p.Asp380Glu Uncertain significance Single submitter
- DUOX1 p.Asp492His Uncertain significance Single submitter
- DUOX1 p.Asp782Asn Uncertain significance Single submitter
- DUOX1 p.Asp782Glu Uncertain significance Single submitter
- DUOX1 p.Asp874Asn Uncertain significance Single submitter
- DUOX1 p.Cys1026Tyr Uncertain significance Single submitter
- DUOX1 p.Cys1105Tyr Uncertain significance Single submitter
- DUOX1 p.Cys1310Phe Uncertain significance Single submitter
- DUOX1 p.Gln1029His Uncertain significance Single submitter
- DUOX1 p.Gln210Lys Uncertain significance Single submitter
- DUOX1 p.Gln630Arg Uncertain significance Single submitter
- DUOX1 p.Gln687Glu Uncertain significance Single submitter
- DUOX1 p.Gln910His Uncertain significance Single submitter
- DUOX1 p.Gln959Glu Uncertain significance Single submitter
- DUOX1 p.Glu1317Lys Uncertain significance Single submitter
- DUOX1 p.Glu1348Ala Uncertain significance Single submitter
- DUOX1 p.Glu1440Lys Uncertain significance Single submitter
- DUOX1 p.Glu371Lys Uncertain significance Single submitter
- DUOX1 p.Glu466Gly Uncertain significance Single submitter
- DUOX1 p.Glu466Lys Uncertain significance Single submitter
- DUOX1 p.Glu503Gln Uncertain significance Single submitter
- DUOX1 p.Glu744Asp Uncertain significance Single submitter
- DUOX1 p.Glu796Lys Uncertain significance Single submitter
- DUOX1 p.Glu901Lys Uncertain significance Single submitter
- DUOX1 p.Glu930Lys Uncertain significance Single submitter
- DUOX1 p.Gly1239Ser Uncertain significance Single submitter
- DUOX1 p.Gly1388Arg Uncertain significance Single submitter
- DUOX1 p.Gly1516Glu Uncertain significance Single submitter
- DUOX1 p.Gly171Ser Uncertain significance Single submitter
- DUOX1 p.Gly224Arg Uncertain significance Single submitter
- DUOX1 p.Gly592Arg Uncertain significance Single submitter
- DUOX1 p.Gly698Arg Uncertain significance Single submitter
- DUOX1 p.His1144Arg Uncertain significance Single submitter
- DUOX1 p.His1250Tyr Uncertain significance Single submitter
- DUOX1 p.His1378Arg Uncertain significance Single submitter
- DUOX1 p.His346Tyr Uncertain significance Single submitter
- DUOX1 p.His762Arg Uncertain significance Single submitter
- DUOX1 p.Ile1133Val Uncertain significance Single submitter
- DUOX1 p.Ile290Val Uncertain significance Single submitter
- DUOX1 p.Ile82Val Uncertain significance Single submitter
- DUOX1 p.Ile886Val Uncertain significance Single submitter
- DUOX1 p.Ile947Val Uncertain significance Single submitter
- DUOX1 p.Leu1027Val Uncertain significance Single submitter
- DUOX1 p.Leu1132Val Uncertain significance Single submitter
- DUOX1 p.Leu1143Val Uncertain significance Single submitter
- DUOX1 p.Leu1231Phe Uncertain significance Single submitter
- DUOX1 p.Leu1243Pro Uncertain significance Single submitter
- DUOX1 p.Leu1399Phe Uncertain significance Single submitter
- DUOX1 p.Leu361Phe Uncertain significance Single submitter
- DUOX1 p.Leu523Val Uncertain significance Single submitter
- DUOX1 p.Leu798Pro Uncertain significance Single submitter
- DUOX1 p.Leu981Val Uncertain significance Single submitter
- DUOX1 p.Lys1264Glu Uncertain significance Single submitter
- DUOX1 p.Lys1527Asn Uncertain significance Single submitter
- DUOX1 p.Lys653Asn Uncertain significance Single submitter
- DUOX1 p.Lys653Glu Uncertain significance Single submitter
- DUOX1 p.Lys688Glu Uncertain significance Single submitter
- DUOX1 p.Met1096Val Uncertain significance Single submitter
- DUOX1 p.Met333Val Uncertain significance Single submitter
- DUOX1 p.Phe1395Leu Uncertain significance Single submitter
- DUOX1 p.Pro1353Leu Uncertain significance Single submitter
- DUOX1 p.Pro162Ser Uncertain significance Single submitter
- DUOX1 p.Pro297Arg Uncertain significance Single submitter
- DUOX1 p.Pro316Leu Uncertain significance Single submitter
- DUOX1 p.Pro411Leu Uncertain significance Single submitter
- DUOX1 p.Pro549Arg Uncertain significance Single submitter
- DUOX1 p.Pro549Ser Uncertain significance Single submitter
- DUOX1 p.Pro568Leu Uncertain significance Single submitter
- DUOX1 p.Pro655Ser Uncertain significance Single submitter
- DUOX1 p.Pro66Ser Uncertain significance Single submitter
- DUOX1 p.Pro787Ser Uncertain significance Single submitter
- DUOX1 p.Ser1325Phe Uncertain significance Single submitter
- DUOX1 p.Ser186Gly Uncertain significance Single submitter
- DUOX1 p.Ser356Thr Uncertain significance Single submitter
- DUOX1 p.Ser369Asn Uncertain significance Single submitter
- DUOX1 p.Ser422Cys Uncertain significance Single submitter
- DUOX1 p.Ser49Phe Uncertain significance Single submitter
- DUOX1 p.Ser634Asn Uncertain significance Single submitter
- DUOX1 p.Thr1030Met Uncertain significance Single submitter
- DUOX1 p.Thr1076Arg Uncertain significance Single submitter
- DUOX1 p.Thr1076Ile Uncertain significance Single submitter
- DUOX1 p.Trp1222Arg Uncertain significance Single submitter
- DUOX1 p.Trp16Cys Uncertain significance Single submitter
- DUOX1 p.Tyr179Cys Uncertain significance Single submitter
- DUOX1 p.Val1121Leu Uncertain significance Single submitter
- DUOX1 p.Val113Met Uncertain significance Single submitter
- DUOX1 p.Val1287Ala Uncertain significance Single submitter
- DUOX1 p.Val13Ala Uncertain significance Single submitter
- DUOX1 p.Val363Phe Uncertain significance Single submitter
- DUOX1 p.Val641Ala Uncertain significance Single submitter
- DUOX1 p.Val641Met Uncertain significance Single submitter
Predictors split 59
The independent predictors disagree with each other — read with care.
- DUOX1 p.Arg1464Ser Uncertain significance Multiple submitters
- DUOX1 p.Ala1125Thr Uncertain significance Single submitter
- DUOX1 p.Ala383Val Uncertain significance Single submitter
- DUOX1 p.Arg1036His Uncertain significance Single submitter
- DUOX1 p.Arg1043His Uncertain significance Single submitter
- DUOX1 p.Arg1043Leu Uncertain significance Single submitter
- DUOX1 p.Arg1119Cys Uncertain significance Single submitter
- DUOX1 p.Arg1424Gln Uncertain significance Single submitter
- DUOX1 p.Arg1473Gln Uncertain significance Single submitter
- DUOX1 p.Arg1481Gln Uncertain significance Single submitter
- DUOX1 p.Arg1488His Uncertain significance Single submitter
- DUOX1 p.Arg1513Trp Uncertain significance Single submitter
- DUOX1 p.Arg311Trp Uncertain significance Single submitter
- DUOX1 p.Arg426Trp Uncertain significance Single submitter
- DUOX1 p.Arg428Gln Uncertain significance Single submitter
- DUOX1 p.Arg507Trp Uncertain significance Single submitter
- DUOX1 p.Arg730Trp Uncertain significance Single submitter
- DUOX1 p.Arg760Trp Uncertain significance Single submitter
- DUOX1 p.Arg952Trp Uncertain significance Single submitter
- DUOX1 p.Asn38Ser Uncertain significance Single submitter
- DUOX1 p.Asp1128His Uncertain significance Single submitter
-
DUOX1 p.Asp1263Glu
Uncertain significance
Single submitter
DUOX1-related disorder
- DUOX1 p.Asp1462Asn Uncertain significance Single submitter
- DUOX1 p.Asp926Tyr Uncertain significance Single submitter
- DUOX1 p.Cys1165Tyr Uncertain significance Single submitter
- DUOX1 p.Gln1032Arg Uncertain significance Single submitter
- DUOX1 p.Gln1033Pro Uncertain significance Single submitter
- DUOX1 p.Glu1441Gln Uncertain significance Single submitter
- DUOX1 p.His105Gln Uncertain significance Single submitter
- DUOX1 p.His1319Tyr Uncertain significance Single submitter
- DUOX1 p.Ile284Thr Uncertain significance Single submitter
- DUOX1 p.Leu245Gln Uncertain significance Single submitter
- DUOX1 p.Leu375Pro Uncertain significance Single submitter
- DUOX1 p.Lys1035Met Uncertain significance Single submitter
- DUOX1 p.Lys1272Asn Uncertain significance Single submitter
- DUOX1 p.Lys1460Asn Uncertain significance Single submitter
- DUOX1 p.Met823Thr Uncertain significance Single submitter
- DUOX1 p.Phe1218Tyr Uncertain significance Single submitter
- DUOX1 p.Phe1241Leu Uncertain significance Single submitter
- DUOX1 p.Phe313Leu Uncertain significance Single submitter
- DUOX1 p.Phe329Ser Uncertain significance Single submitter
- DUOX1 p.Pro1179His Uncertain significance Single submitter
- DUOX1 p.Pro128Leu Uncertain significance Single submitter
- DUOX1 p.Pro1497Thr Uncertain significance Single submitter
- DUOX1 p.Pro206Thr Uncertain significance Single submitter
- DUOX1 p.Pro335His Uncertain significance Single submitter
- DUOX1 p.Pro433Thr Uncertain significance Single submitter
- DUOX1 p.Ser1383Pro Uncertain significance Single submitter
- DUOX1 p.Ser1482Asn Uncertain significance Single submitter
- DUOX1 p.Thr1079Ile Uncertain significance Single submitter
- DUOX1 p.Thr535Asn Uncertain significance Single submitter
- DUOX1 p.Trp172Cys Uncertain significance Single submitter
- DUOX1 p.Tyr1232Cys Uncertain significance Single submitter
- DUOX1 p.Val1150Met Uncertain significance Single submitter
- DUOX1 p.Val1196Phe Uncertain significance Single submitter
- DUOX1 p.Val1478Asp Uncertain significance Single submitter
- DUOX1 p.Val363Asp Uncertain significance Single submitter
- DUOX1 p.Val659Met Uncertain significance Single submitter
- DUOX1 p.Val900Leu Uncertain significance Single submitter
All DUOX1 variants
Benign 12
- c.1389+9G>T Multiple submitters
- p.Arg795Trp Multiple submitters
- p.Cys1414= Multiple submitters
- p.Leu1178Phe Multiple submitters
- p.Ser1094= Multiple submitters
- c.1389+8G>A Single submitter
- c.3524+15_3524+16del Single submitter
- p.Ala378= Single submitter
- p.Ile599= Single submitter
- p.Leu607= Single submitter
- p.Ser193= Single submitter
- p.Thr1189= Single submitter
Likely benign 19
- c.3524+15_3524+26del Single submitter
- c.4534-9C>T Single submitter
- p.Ala324Val Single submitter
- p.Ala781= Single submitter
- p.Arg1219Gln Single submitter
- p.Arg194Gly Single submitter
- p.Arg229Gln Single submitter
- p.Asp1174= Single submitter
- p.Asp976Asn Single submitter
- p.Gly1521Arg Single submitter
- p.Leu508= Single submitter
- p.Met340Val Single submitter
- p.Phe205= Single submitter
- p.Ser58Asn Single submitter
- p.Thr1423= Single submitter
- p.Val323Leu Single submitter
- p.Val583Ile Single submitter
- c.143-3C>A No assertion criteria DUOX1-related disorder
- p.Arg857His No assertion criteria DUOX1-related disorder
Uncertain significance 198
- p.Arg1464Ser Multiple submitters ⚠
- p.Ala1053Gly Single submitter ⚠
- p.Ala1125Thr Single submitter ⚠
- p.Ala1126Pro Single submitter ⚠
- p.Ala204Thr Single submitter ⚠
- p.Ala218Val Single submitter ⚠
- p.Ala291Val Single submitter ⚠
- p.Ala383Val Single submitter ⚠
- p.Ala441Thr Single submitter ⚠
- p.Ala578Val Single submitter ⚠
- p.Ala617Val Single submitter ⚠
- p.Ala954Thr Single submitter ⚠
- p.Arg1036His Single submitter ⚠
- p.Arg1043His Single submitter ⚠
- p.Arg1043Leu Single submitter ⚠
- p.Arg1119Cys Single submitter ⚠
- p.Arg1214Cys Single submitter ⚠
- p.Arg1216Cys Single submitter ⚠
- p.Arg1291Trp Single submitter ⚠
- p.Arg1294Trp Single submitter ⚠
- p.Arg1424Gln Single submitter ⚠
- p.Arg1437Gln Single submitter ⚠
- p.Arg1437Pro Single submitter ⚠
- p.Arg1473Gln Single submitter ⚠
- p.Arg1481Gln Single submitter ⚠
- p.Arg1488His Single submitter ⚠
- p.Arg150Cys Single submitter ⚠
- p.Arg1513Gln Single submitter ⚠
- p.Arg1513Trp Single submitter ⚠
- p.Arg1541Trp Single submitter ⚠
- p.Arg190Pro Single submitter ⚠
- p.Arg207Gly Single submitter ⚠
- p.Arg311Trp Single submitter ⚠
- p.Arg353Gln Single submitter ⚠
- p.Arg426Trp Single submitter ⚠
- p.Arg428Gln Single submitter ⚠
- p.Arg459Trp Single submitter ⚠
- p.Arg507Trp Single submitter ⚠
- p.Arg533Gln Single submitter ⚠
- p.Arg620Gln Single submitter ⚠
- p.Arg632Cys Single submitter ⚠
- p.Arg699His Single submitter ⚠
- p.Arg700Cys Single submitter ⚠
- p.Arg730Trp Single submitter ⚠
- p.Arg746Gln Single submitter ⚠
- p.Arg760Trp Single submitter ⚠
- p.Arg838Gln Single submitter ⚠
- p.Arg857Pro Single submitter ⚠
- p.Arg905Trp Single submitter ⚠
- p.Arg932Cys Single submitter ⚠
- p.Arg932His Single submitter ⚠
- p.Arg952Trp Single submitter ⚠
- p.Arg953Gln Single submitter ⚠
- p.Arg95His Single submitter ⚠
- p.Asn38Ser Single submitter ⚠
- p.Asn546Ser Single submitter ⚠
- p.Asn690Ile Single submitter ⚠
- p.Asn690Lys Single submitter ⚠
- p.Asn928His Single submitter ⚠
- p.Asp1128His Single submitter ⚠
- p.Asp1263Asn Single submitter ⚠
- p.Asp1263Glu Single submitter DUOX1-related disorder ⚠
- p.Asp135Gly Single submitter
- p.Asp1462Asn Single submitter ⚠
- p.Asp202Asn Single submitter ⚠
- p.Asp380Glu Single submitter ⚠
- p.Asp492His Single submitter ⚠
- p.Asp782Asn Single submitter ⚠
- p.Asp782Glu Single submitter ⚠
- p.Asp874Asn Single submitter ⚠
- p.Asp926Tyr Single submitter ⚠
- p.Cys1026Tyr Single submitter ⚠
- p.Cys1105Tyr Single submitter ⚠
- p.Cys1165Tyr Single submitter ⚠
- p.Cys1310Phe Single submitter ⚠
- p.Gln1029His Single submitter ⚠
- p.Gln1032Arg Single submitter ⚠
- p.Gln1033Pro Single submitter ⚠
- p.Gln210Lys Single submitter ⚠
- p.Gln630Arg Single submitter ⚠
- p.Gln687Glu Single submitter ⚠
- p.Gln910His Single submitter ⚠
- p.Gln959Glu Single submitter ⚠
- p.Glu1317Lys Single submitter ⚠
- p.Glu1348Ala Single submitter ⚠
- p.Glu1440Lys Single submitter ⚠
- p.Glu1441Gln Single submitter ⚠
- p.Glu371Lys Single submitter ⚠
- p.Glu466Gly Single submitter ⚠
- p.Glu466Lys Single submitter ⚠
- p.Glu503Gln Single submitter ⚠
- p.Glu744Asp Single submitter ⚠
- p.Glu796Lys Single submitter ⚠
- p.Glu901Lys Single submitter ⚠
- p.Glu930Lys Single submitter ⚠
- p.Gly1239Ser Single submitter ⚠
- p.Gly1388Arg Single submitter ⚠
- p.Gly1516Glu Single submitter ⚠
- p.Gly171Ser Single submitter ⚠
- p.Gly224Arg Single submitter ⚠
- p.Gly592Arg Single submitter ⚠
- p.Gly698Arg Single submitter ⚠
- p.His105Gln Single submitter ⚠
- p.His1144Arg Single submitter ⚠
- p.His1250Tyr Single submitter ⚠
- p.His1319Tyr Single submitter ⚠
- p.His1378Arg Single submitter ⚠
- p.His346Tyr Single submitter ⚠
- p.His762Arg Single submitter ⚠
- p.Ile1133Val Single submitter ⚠
- p.Ile284Thr Single submitter ⚠
- p.Ile290Val Single submitter ⚠
- p.Ile82Val Single submitter ⚠
- p.Ile886Val Single submitter ⚠
- p.Ile947Val Single submitter ⚠
- p.Leu1027Val Single submitter ⚠
- p.Leu1132Val Single submitter ⚠
- p.Leu1143Val Single submitter ⚠
- p.Leu1231Phe Single submitter ⚠
- p.Leu1243Pro Single submitter ⚠
- p.Leu1399Phe Single submitter ⚠
- p.Leu245Gln Single submitter ⚠
- p.Leu361Phe Single submitter ⚠
- p.Leu375Pro Single submitter ⚠
- p.Leu523Val Single submitter ⚠
- p.Leu798Pro Single submitter ⚠
- p.Leu981Val Single submitter ⚠
- p.Lys1035Met Single submitter ⚠
- p.Lys1264Glu Single submitter ⚠
- p.Lys1272Asn Single submitter ⚠
- p.Lys1460Asn Single submitter ⚠
- p.Lys1527Asn Single submitter ⚠
- p.Lys653Asn Single submitter ⚠
- p.Lys653Glu Single submitter ⚠
- p.Lys688Glu Single submitter ⚠
- p.Met1096Val Single submitter ⚠
- p.Met333Val Single submitter ⚠
- p.Met823Thr Single submitter ⚠
- p.Phe1218Tyr Single submitter ⚠
- p.Phe1241Leu Single submitter ⚠
- p.Phe1395Leu Single submitter ⚠
- p.Phe313Leu Single submitter ⚠
- p.Phe329Ser Single submitter ⚠
- p.Pro1179His Single submitter ⚠
- p.Pro128Leu Single submitter ⚠
- p.Pro1353Leu Single submitter ⚠
- p.Pro1497Thr Single submitter ⚠
- p.Pro162Ser Single submitter ⚠
- p.Pro206Thr Single submitter ⚠
- p.Pro297Arg Single submitter ⚠
- p.Pro316Leu Single submitter ⚠
- p.Pro335His Single submitter ⚠
- p.Pro411Leu Single submitter ⚠
- p.Pro433Thr Single submitter ⚠
- p.Pro549Arg Single submitter ⚠
- p.Pro549Ser Single submitter ⚠
- p.Pro568Leu Single submitter ⚠
- p.Pro655Ser Single submitter ⚠
- p.Pro66Ser Single submitter ⚠
- p.Pro787Ser Single submitter ⚠
- p.Ser1325Phe Single submitter ⚠
- p.Ser1383Pro Single submitter ⚠
- p.Ser1482Asn Single submitter ⚠
- p.Ser184Tyr Single submitter
- p.Ser186Gly Single submitter ⚠
- p.Ser356Thr Single submitter ⚠
- p.Ser369Asn Single submitter ⚠
- p.Ser422Cys Single submitter ⚠
- p.Ser49Phe Single submitter ⚠
- p.Ser634Asn Single submitter ⚠
- p.Ser822Phe Single submitter
- p.Thr1030Met Single submitter ⚠
- p.Thr1076Arg Single submitter ⚠
- p.Thr1076Ile Single submitter ⚠
- p.Thr1079Ile Single submitter ⚠
- p.Thr535Asn Single submitter ⚠
- p.Trp1222Arg Single submitter ⚠
- p.Trp16Cys Single submitter ⚠
- p.Trp172Cys Single submitter ⚠
- p.Tyr1232Cys Single submitter ⚠
- p.Tyr179Cys Single submitter ⚠
- p.Tyr255Cys Single submitter
- p.Val1121Leu Single submitter ⚠
- p.Val113Met Single submitter ⚠
- p.Val1150Met Single submitter ⚠
- p.Val1196Phe Single submitter ⚠
- p.Val1287Ala Single submitter ⚠
- p.Val13Ala Single submitter ⚠
- p.Val1478Asp Single submitter ⚠
- p.Val363Asp Single submitter ⚠
- p.Val363Phe Single submitter ⚠
- p.Val63Met Single submitter
- p.Val641Ala Single submitter ⚠
- p.Val641Met Single submitter ⚠
- p.Val659Met Single submitter ⚠
- p.Val713Leu Single submitter
- p.Val900Leu Single submitter ⚠
- p.Gln1456Ter No assertion criteria DUOX1-related disorder