Variants of ABCB4 located in coding regions
! These entries do not include the mined mutations.| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| p.Thr34Met | exon 3 | ? | Uncertain significance | ClinVar |
| p.Arg47Gln | exon 4 | ? | Uncertain significance | ClinVar |
| p.Arg144* | exon 6 | D | Pathogenic | ClinVar |
| p.Ile146= | exon 6 | ? | Uncertain significance | ClinVar |
| p.Asn168= | exon 6 | N | Benign | ClinVar |
| p.Thr175Ala | exon 6 | D | Pathogenic | ClinVar |
| p.Leu238Val | exon 8 | ? | Uncertain significance | ClinVar |
| p.Ser320Phe | exon 9 | ? | Conflicting interpretations of pathogenicity | ClinVar |
| p.Tyr403His | exon 11 | D | Pathogenic | ClinVar |
| p.Glu528Asp | exon 14 | N | Benign | ClinVar |
| p.Arg545Gly | exon 14 | D | Pathogenic | ClinVar |
| p.Ala546Asp | exon 14 | D | Pathogenic | ClinVar |
| p.Arg590Gln | exon 15 | ? | Conflicting interpretations of pathogenicity | ClinVar |
| p.Pro726Leu | exon 17 | ? | Uncertain significance | ClinVar |
| p.Arg788Gln | exon 19 | N | Benign | ClinVar |
| p.Arg957* | exon 23 | D | Pathogenic | ClinVar |
| p.Arg969His | exon 23 | D | Likely pathogenic | ClinVar |
| p.Thr1077Met | exon 25 | ? | Uncertain significance | ClinVar |
| p.Pro1168Ser | exon 26 | D | Pathogenic | ClinVar |