Variants of ABCA1 located in coding regions
! These entries do not include the mined mutations.| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| p.Arg219Lys | exon 7 | ? | protective | ClinVar |
| p.Tyr573* | exon 14 | D | Pathogenic | ClinVar |
| p.Trp590Ser | exon 14 | D | Pathogenic | ClinVar |
| p.Gln597Arg | exon 14 | D | Pathogenic | ClinVar |
| p.Asn935His | exon 19 | D | Pathogenic | ClinVar |
| p.Asn935Ser | exon 19 | D | Pathogenic | ClinVar |
| p.Ala937Val | exon 19 | D | Pathogenic | ClinVar |
| p.Asp1099Tyr | exon 23 | D | Pathogenic | ClinVar |
| p.Asp1289Asn | exon 27 | D | Pathogenic | ClinVar |
| p.Cys1477Arg | exon 31 | D | Pathogenic | ClinVar |
| p.Ser1506Leu | exon 32 | D | Pathogenic | ClinVar |
| p.Arg1680Trp | exon 37 | D | Pathogenic | ClinVar |
| p.Phe2009Ser | exon 45 | D | Pathogenic | ClinVar |
| p.Arg2081Trp | exon 47 | D | Pathogenic | ClinVar |