Variants of ABCB6 located in coding regions
! These entries do not include the mined mutations.| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| p.Ala57Thr | exon 1 | D | Pathogenic | ClinVar |
| p.Ser170Gly | exon 1 | D | Pathogenic | ClinVar |
| p.Arg192Gln | exon 2 | ? | Uncertain significance | ClinVar |
| p.Leu356Pro | exon 5 | D | Pathogenic | ClinVar |
| p.Gln555Lys | exon 11 | D | Pathogenic | ClinVar |
| p.Gly579Glu | exon 12 | D | Pathogenic | ClinVar |
| p.Arg589His | exon 12 | ? | not provided | ClinVar |
| p.Arg648* | exon 14 | D | Pathogenic | ClinVar |
| p.Leu811Val | exon 19 | D | Pathogenic | ClinVar |