Variants of ABCD1 located in non-coding regions
Variation | Location | Effect | Review status | URL |
---|---|---|---|---|
c.901-16C>T | intron 1 | N | Benign | ClinVar |
c.1780+4G>A | intron 7 | ? | Uncertain significance | ClinVar |
c.1781-1G>A | intron 7 | D | Pathogenic | ClinVar |
c.1866-10G>A | intron 8 | D | Pathogenic | ClinVar |
c.1992-15C>T | intron 9 | ? | Uncertain significance | ClinVar |
c.1992-2A>G | intron 9 | D | Pathogenic | ClinVar |