ABO — 12 ClinVar variants
All ClinVar germline ABO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
9 Benign · 3 Likely benign
Full ABO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll ABO variants
Benign 9
- p.Arg63= Multiple submitters
- p.Gly268Ala Single submitter
- p.Leu324= Single submitter ABO-related disorder
- p.Phe216Ile Single submitter
- p.Pro74Ser Single submitter
- p.Thr88Profs Single submitter
- p.Val36Phe Single submitter
- p.Cys14Ter No assertion criteria Severely weakened expression of A on erythrocytes
- p.Tyr34Ter No assertion criteria Severely weakened expression of A on erythrocytes
Likely benign 3
- p.Ala177Thr Single submitter
- p.Glu276Lys Single submitter ABO-related disorder
- p.Ile256= Single submitter ABO-related disorder