Variants of ABCG8 located in coding regions
! These entries do not include the mined mutations.| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| p.Pro17= | exon 1 | N | Benign | ClinVar |
| p.Asp19His | exon 1 | D | Pathogenic | ClinVar |
| p.Ser107* | exon 3 | D | Pathogenic | ClinVar |
| p.Pro231Thr | exon 5 | D | Pathogenic | ClinVar |
| p.Trp361* | exon 7 | D | Pathogenic | ClinVar |
| p.Thr400Lys | exon 8 | N | Benign | ClinVar |
| p.Thr401Ser | exon 8 | ? | Uncertain significance | ClinVar |
| p.Arg412* | exon 9 | D | Pathogenic | ClinVar |
| p.Val463Ile | exon 9 | ? | Uncertain significance | ClinVar |
| p.Lys496Glu | exon 10 | ? | Uncertain significance | ClinVar |
| p.Leu596Arg | exon 12 | D | Pathogenic | ClinVar |
| p.Tyr658* | exon 13 | D | Pathogenic | ClinVar |