Variants
LDLR variants
Predicted effect: Synonymous. 3 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.1216C>AR385R | Exon 9 | 11,113,307 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.621C>TG186G | Exon 4 | 11,105,527 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.1813C>T | Exon 12 | 11,116,966 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |