Variants of ABCB7 located in coding regions
! These entries do not include the mined mutations.| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| p.Leu105= | exon 3 | N | Benign | ClinVar |
| p.Glu209Asp | exon 6 | D | Pathogenic | ClinVar |
| p.Arg314Gln | exon 7 | N | Benign | ClinVar |
| p.Ile401Met | exon 9 | D | Pathogenic | ClinVar |
| p.Val412Leu | exon 10 | D | Pathogenic | ClinVar |
| p.Glu434Lys | exon 10 | D | Pathogenic | ClinVar |
| p.Ala581Val | exon 13 | N | Benign | ClinVar |
| p.Ala581= | exon 13 | N | Benign | ClinVar |
| p.Gly682Ser | exon 16 | D | Pathogenic | ClinVar |