Variants
LDLR variants
Predicted effect: Start lost. 6 of the 915 LDLR variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.1A>C | Exon 1 | 11,089,549 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>G | Exon 1 | 11,089,549 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>T | Exon 1 | 11,089,549 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.2T>C | Exon 1 | 11,089,550 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.3G>A | Exon 1 | 11,089,551 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.3G>T | Exon 1 | 11,089,551 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |