Variants of ABCC9 located in non-coding regions
Variation | Location | Effect | Review status | URL |
---|---|---|---|---|
c.-11T>C | promoter; see TF sites | ? | Uncertain significance | ClinVar |
c.285-16G>A | intron 2 | N | Benign | ClinVar |
c.406+2111C>G | intron 3 | ? | Uncertain significance | ClinVar |
c.407-14C>A | intron 3 | N | Benign/Likely benign | ClinVar |
c.573+6T>C | intron 4 | ? | Uncertain significance | ClinVar |
c.574-5C>A | intron 4 | N | Benign | ClinVar |
c.816+11G>A | intron 5 | N | Likely benign | ClinVar |
c.817-17C>T | intron 5 | N | Benign | ClinVar |
c.1012-7G>A | intron 6 | ? | Uncertain significance | ClinVar |
c.1164+11A>G | intron 7 | N | Benign | ClinVar |
c.2093-7T>C | intron 15 | N | Likely benign | ClinVar |
c.2199-11T>C | intron 16 | N | Benign/Likely benign | ClinVar |
c.2199-6T>C | intron 16 | N | Likely benign | ClinVar |
c.2238-1G>A | intron 17 | ? | Conflicting interpretations of pathogenicity | ClinVar |
c.2339+13A>G | intron 18 | N | Likely benign | ClinVar |
c.2424+9T>C | intron 19 | N | Benign | ClinVar |
c.2425-13G>A | intron 19 | ? | Uncertain significance | ClinVar |
c.2643+17G>C | intron 21 | N | Benign | ClinVar |
c.2644-11G>A | intron 21 | N | Benign/Likely benign | ClinVar |
c.2644-11G>C | intron 21 | ? | Uncertain significance | ClinVar |
c.2770-13A>G | intron 22 | ? | Uncertain significance | ClinVar |
c.3096+13C>T | intron 24 | N | Likely benign | ClinVar |
c.3315+4A>G | intron 26 | ? | Uncertain significance | ClinVar |
c.3473+4A>G | intron 27 | ? | Uncertain significance | ClinVar |