Variants of ABCG5 located in coding regions
! These entries do not include the mined mutations.| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| p.Gln16* | exon 1 | D | Pathogenic | ClinVar |
| p.Glu77* | exon 2 | D | Pathogenic | ClinVar |
| p.Val144Ala | exon 4 | ? | Uncertain significance | ClinVar |
| p.Arg243* | exon 6 | D | Pathogenic | ClinVar |
| p.Arg389His | exon 9 | D | Pathogenic | ClinVar |
| p.Arg419Pro | exon 9 | D | Pathogenic | ClinVar |
| p.Gly428= | exon 9 | ? | Uncertain significance | ClinVar |
| p.Arg446* | exon 10 | D | Pathogenic | ClinVar |
| p.Met622Val | exon 13 | ? | Uncertain significance | ClinVar |