Variants of ABCC6 located in non-coding regions
| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| c.-219A>C | promoter; see TF sites | D | Likely associated to PXE | PubMed |
| c.37-1G>A | intron 1 | D | splice | LOVD |
| c.220-1G>C | intron 2 | D | splice | LOVD |
| c.345+26C>T | intron 3 | D | intronic | LOVD |
| c.346-6G>A | intron 3 | D | possible splice | LOVD |
| c.600+23C>T | intron 5 | D | intronic | LOVD |
| c.662+12C>T | intron 6 | D | intronic | LOVD |
| c.998+2delT | intron 8 | D | splice | LOVD |
| c.998+2_998+3delTG | intron 8 | D | splice | LOVD |
| c.1176+6C>T | intron 9 | D | possible splice | LOVD |
| c.1338+7C>G | intron 10 | D | possible splice | LOVD |
| c.1338+20C>G | intron 10 | D | intronic | LOVD |
| c.1432-22C>A | intron 11 | D | intronic | LOVD |
| c.1868-5T>G | intron 14 | D | possible splice | LOVD |
| c.2070+5G>A | intron 16 | D | splice | LOVD |
| c.2247+22T>G | intron 17 | D | intronic | LOVD |
| c.2248-12_11delTT | intron 17 | D | intronic | LOVD |
| c.2248-2_1delAG | intron 17 | D | splice | LOVD |
| c.2416-2_1delAG | intron 18 | D | splice | LOVD |
| c.2787+1G>T | intron 21 | D | Pathogenic | ClinVar |
| c.2787+1G>T | intron 21 | D | splice | LOVD |
| c.3506+15G>A | intron 24 | D | intronic | LOVD |
| c.3507-16T>C | intron 24 | D | intronic | LOVD |
| c.3507-3C>T | intron 24 | D | splice | LOVD |
| c.3507-1G>A | intron 24 | D | splice | LOVD |
| c.3634-3C>A | intron 25 | D | splice | LOVD |
| c.3736-1G>A | intron 26 | D | Pathogenic | ClinVar |
| c.3736-1G>A | intron 26 | D | splice | LOVD |
| c.3883-24G>A | intron 27 | D | intronic | LOVD |
| c.3883-6G>A | intron 27 | D | possible splice | LOVD |
| c.3883-5G>A | intron 27 | D | possible splice | LOVD |
| c.4208+9G>A | intron 29 | D | intronic | LOVD |
| c.4403+11C>G | intron 30 | D | intronic | LOVD |
| c.*17G>A | exon 31 | D | 3' UTR | LOVD |
| c.*38G>A | exon 31 | D | 3' UTR | LOVD |