Variants of ABCA12 located in coding regions
! These entries do not include the mined mutations.| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| p.Gly1179Arg | exon 24 | D | Pathogenic | ClinVar |
| p.Asn1380Ser | exon 28 | D | Pathogenic | ClinVar |
| p.Gly1381Glu | exon 28 | D | Pathogenic | ClinVar |
| p.Arg1514His | exon 30 | D | Pathogenic | ClinVar |
| p.Glu1539Lys | exon 31 | D | Pathogenic | ClinVar |
| p.Gly1651Ser | exon 32 | D | Pathogenic | ClinVar |
| p.Arg2204* | exon 44 | D | Pathogenic | ClinVar |
| p.Asp2365Asn | exon 47 | D | Pathogenic | ClinVar |