Variants of ABCC8 located in non-coding regions
| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| c.-19A>G | promoter; see TF sites | ? | Uncertain significance | ClinVar |
| c.291-2A>G | intron 2 | D | Likely pathogenic | ClinVar |
| c.413-5G>A | intron 3 | ? | Uncertain significance | ClinVar |
| c.579+14C>T | intron 4 | N | Likely benign | ClinVar |
| c.823-8C>T | intron 5 | N | Likely benign | ClinVar |
| c.1332+17G>C | intron 8 | ? | Uncertain significance | ClinVar |
| c.2116+2T>C | intron 15 | D | Likely pathogenic | ClinVar |
| c.2117-12C>A | intron 15 | ? | Uncertain significance | ClinVar |
| c.2117-3C>T | intron 15 | N | Benign/Likely benign | ClinVar |
| c.2292-34T>C | intron 18 | N | Likely benign | ClinVar |
| c.2556+22G>A | intron 21 | N | Likely benign | ClinVar |
| c.2820+17A>G | intron 23 | N | Likely benign | ClinVar |
| c.4120-27T>C | intron 33 | N | Likely benign | ClinVar |
| c.4123-19C>T | intron 33 | ? | Conflicting interpretations of pathogenicity | ClinVar |
| c.4415-14C>T | intron 36 | ? | Uncertain significance | ClinVar |
| c.4609-40A>G | intron 38 | N | Likely benign | ClinVar |