DHRS3 — 57 ClinVar variants
All ClinVar germline DHRS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
1 Pathogenic · 4 Benign · 5 Likely benign · 47 Uncertain significance
Full DHRS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DHRS3 p.Ala125Gly Uncertain significance Single submitter
- DHRS3 p.Ala125Thr Uncertain significance Single submitter
- DHRS3 p.Ala193Val Uncertain significance Single submitter
- DHRS3 p.Ala214Thr Uncertain significance Single submitter
- DHRS3 p.Ala269Gly Uncertain significance Single submitter
- DHRS3 p.Ala269Val Uncertain significance Single submitter
- DHRS3 p.Ala280Thr Uncertain significance Single submitter
- DHRS3 p.Arg111Gln Uncertain significance Single submitter
- DHRS3 p.Arg301Leu Uncertain significance Single submitter
- DHRS3 p.Arg38Gln Uncertain significance Single submitter
- DHRS3 p.Arg61Pro Uncertain significance Single submitter
- DHRS3 p.Arg84Gln Uncertain significance Single submitter
- DHRS3 p.Asn296Ser Uncertain significance Single submitter
- DHRS3 p.Asn40Lys Uncertain significance Single submitter
- DHRS3 p.Glu102Lys Uncertain significance Single submitter
- DHRS3 p.Gly115Cys Uncertain significance Single submitter
- DHRS3 p.Gly115Ser Uncertain significance Single submitter
- DHRS3 p.Gly290Glu Uncertain significance Single submitter
- DHRS3 p.Gly51Arg Uncertain significance Single submitter
- DHRS3 p.His169Gln Uncertain significance Single submitter
- DHRS3 p.Ile276Leu Uncertain significance Single submitter
- DHRS3 p.Leu270Phe Uncertain significance Single submitter
- DHRS3 p.Met16Leu Uncertain significance Single submitter
- DHRS3 p.Met16Val Uncertain significance Single submitter
- DHRS3 p.Pro160Leu Uncertain significance Single submitter
- DHRS3 p.Pro240Ala Uncertain significance Single submitter
- DHRS3 p.Pro243Leu Uncertain significance Single submitter
- DHRS3 p.Thr291Ile Uncertain significance Single submitter
- DHRS3 p.Val176Met Uncertain significance Single submitter
- DHRS3 p.Val271Leu Uncertain significance Single submitter
- DHRS3 p.Val67Ala Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- DHRS3 p.Ala63Ser Uncertain significance Single submitter
- DHRS3 p.Arg100Gln Uncertain significance Single submitter
- DHRS3 p.Arg248Gln Uncertain significance Single submitter
- DHRS3 p.Arg249Met Uncertain significance Single submitter
- DHRS3 p.Glu101Lys Uncertain significance Single submitter
- DHRS3 p.Glu78Lys Uncertain significance Single submitter
-
DHRS3 p.Gly150Ser
Uncertain significance
Single submitter
DHRS3-related disorder
- DHRS3 p.Gly184Ser Uncertain significance Single submitter
- DHRS3 p.Ile170Val Uncertain significance Single submitter
- DHRS3 p.Ile43Val Uncertain significance Single submitter
- DHRS3 p.Pro210Leu Uncertain significance Single submitter
- DHRS3 p.Ser223Gly Uncertain significance Single submitter
- DHRS3 p.Thr106Met Uncertain significance Single submitter
- DHRS3 p.Thr79Met Uncertain significance Single submitter
- DHRS3 p.Thr88Ala Uncertain significance Single submitter
-
DHRS3 p.Arg56Cys
Likely benign
No assertion criteria
DHRS3-related disorder
-
DHRS3 p.Glu244Gln
Uncertain significance
No assertion criteria
DHRS3 Deficiency
-
DHRS3 p.Pro30Arg
Benign
No assertion criteria
DHRS3-related disorder
- DHRS3 p.Val110Ile Likely benign No assertion criteria
All DHRS3 variants
Pathogenic 1
- p.Val171Met No assertion criteria DHRS3 Deficiency
Benign 4
- p.Pro160= Single submitter
- c.459+10A>C No assertion criteria DHRS3-related disorder
- p.Pro30Arg No assertion criteria DHRS3-related disorder ⚠
- p.Thr80= No assertion criteria DHRS3-related disorder
Likely benign 5
- p.Ser175= Single submitter
- p.Val271Ile Single submitter
- p.Arg56Cys No assertion criteria DHRS3-related disorder ⚠
- p.Gly115Asp No assertion criteria
- p.Val110Ile No assertion criteria ⚠
Uncertain significance 47
- p.Ala125Gly Single submitter ⚠
- p.Ala125Thr Single submitter ⚠
- p.Ala193Val Single submitter ⚠
- p.Ala214Thr Single submitter ⚠
- p.Ala269Gly Single submitter ⚠
- p.Ala269Val Single submitter ⚠
- p.Ala280Thr Single submitter ⚠
- p.Ala63Ser Single submitter ⚠
- p.Arg100Gln Single submitter ⚠
- p.Arg111Gln Single submitter ⚠
- p.Arg248Gln Single submitter ⚠
- p.Arg249Met Single submitter ⚠
- p.Arg301Leu Single submitter ⚠
- p.Arg38Gln Single submitter ⚠
- p.Arg61Pro Single submitter ⚠
- p.Arg84Gln Single submitter ⚠
- p.Asn296Ser Single submitter ⚠
- p.Asn40Lys Single submitter ⚠
- p.Glu101Lys Single submitter ⚠
- p.Glu102Lys Single submitter ⚠
- p.Glu78Lys Single submitter ⚠
- p.Gly115Cys Single submitter ⚠
- p.Gly115Ser Single submitter ⚠
- p.Gly150Ser Single submitter DHRS3-related disorder ⚠
- p.Gly184Ser Single submitter ⚠
- p.Gly290Glu Single submitter ⚠
- p.Gly51Arg Single submitter ⚠
- p.His169Gln Single submitter ⚠
- p.Ile170Val Single submitter ⚠
- p.Ile276Leu Single submitter ⚠
- p.Ile43Val Single submitter ⚠
- p.Leu270Phe Single submitter ⚠
- p.Met16Leu Single submitter ⚠
- p.Met16Val Single submitter ⚠
- p.Pro160Leu Single submitter ⚠
- p.Pro210Leu Single submitter ⚠
- p.Pro240Ala Single submitter ⚠
- p.Pro243Leu Single submitter ⚠
- p.Ser223Gly Single submitter ⚠
- p.Thr106Met Single submitter ⚠
- p.Thr291Ile Single submitter ⚠
- p.Thr79Met Single submitter ⚠
- p.Thr88Ala Single submitter ⚠
- p.Val176Met Single submitter ⚠
- p.Val271Leu Single submitter ⚠
- p.Val67Ala Single submitter ⚠
- p.Glu244Gln No assertion criteria DHRS3 Deficiency ⚠