Variants
LDLR variants
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.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A399D | c.1196C>A | Exon 9 | 11,113,287 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A399T | c.1195G>A | Exon 9 | 11,113,286 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A431P | c.1291G>C | Exon 9 | 11,113,382 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A431T | c.1291G>A | Exon 9 | 11,113,382 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A540S | c.1618G>T | Exon 11 | 11,116,125 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A540T | c.1618G>A | Exon 11 | 11,116,125 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A612Rfs*50 | c.1830_1839del | Exon 12 | 11,116,980 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A697P | c.2089G>C | Exon 14 | 11,120,471 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| 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 | |
| c.190+4A>T | Intron 2 | 11,100,349 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.261G>A | Exon 3 | 11,102,734 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.313+1G>AFH-Elverum | Intron 3 | 11,102,787 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.313+2T>C | Intron 3 | 11,102,788 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.818-2A>G | Intron 5 | 11,107,390 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.941-12G>A | Intron 6 | 11,110,640 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1186+5G>A | Intron 8 | 11,111,644 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1216C>AR385R | Exon 9 | 11,113,307 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1285G>T | Exon 9 | 11,113,376 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1329G>T | Exon 9 | 11,113,420 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1359-1G>A | Intron 9 | 11,113,534 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1359-5C>G | Intron 9 | 11,113,530 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1567G>C | Exon 10 | 11,113,743 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1705+2T>C | Intron 11 | 11,116,214 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2140+1G>A | Intron 14 | 11,120,523 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2389+2T>G | Intron 16 | 11,128,087 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2475C>A | Exon 17 | 11,129,598 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C27W | c.81C>G | Exon 2 | 11,100,236 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C89R | c.265T>C | Exon 3 | 11,102,738 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C95G | c.283T>G | Exon 3 | 11,102,756 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C95Y | c.284G>A | Exon 3 | 11,102,757 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C104F | c.311G>T | Exon 3 | 11,102,784 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C184S | c.551G>C | Exon 4 | 11,105,457 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C184Y | c.551G>A | Exon 4 | 11,105,457 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C197F | c.590G>T | Exon 4 | 11,105,496 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C222F | c.665G>T | Exon 4 | 11,105,571 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C222R | c.664T>C | Exon 4 | 11,105,570 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C231W | c.693C>G | Exon 4 | 11,105,599 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C243R | c.727T>C | Exon 5 | 11,106,597 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C276R | c.826T>C | Exon 6 | 11,107,400 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C276X | c.828C>A | Exon 6 | 11,107,402 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C289R | c.865T>C | Exon 6 | 11,107,439 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C302Y | c.905G>A | Exon 6 | 11,107,479 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C313R | c.937T>C | Exon 6 | 11,107,511 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C325Y | c.974G>A | Exon 7 | 11,110,685 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C352Y | c.1055G>A | Exon 7 | 11,110,766 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C364R | c.1090T>C | Exon 8 | 11,111,543 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C392X | c.1176C>A | Exon 8 | 11,111,629 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C392Y | c.1175G>A | Exon 8 | 11,111,628 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C667Y | c.2000G>A | Exon 14 | 11,120,382 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C681G | c.2041T>G | Exon 14 | 11,120,423 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C681W | c.2043C>G | Exon 14 | 11,120,425 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D90A | c.269A>C | Exon 3 | 11,102,742 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D90E | c.270T>A | Exon 3 | 11,102,743 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D90G | c.269A>G | Exon 3 | 11,102,742 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D90N | c.268G>A | Exon 3 | 11,102,741 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D90Y | c.268G>T | Exon 3 | 11,102,741 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D100G | c.299A>G | Exon 3 | 11,102,772 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D100N | c.298G>A | Exon 3 | 11,102,771 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D118Y | c.352G>T | Exon 4 | 11,105,258 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D170E | c.510C>A | Exon 4 | 11,105,416 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D221G | c.662A>G | Exon 4 | 11,105,568 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D221Y | c.661G>T | Exon 4 | 11,105,567 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D227E | c.681C>G | Exon 4 | 11,105,587 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D266E | c.798T>A | Exon 5 | 11,106,668 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D266G | c.797A>G | Exon 5 | 11,106,667 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D266N | c.796G>A | Exon 5 | 11,106,666 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D266V | c.797A>T | Exon 5 | 11,106,667 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D266Y | c.796G>T | Exon 5 | 11,106,666 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D304E | c.912C>G | Exon 6 | 11,107,486 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D304N | c.910G>A | Exon 6 | 11,107,484 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D304Y | c.910G>T | Exon 6 | 11,107,484 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D356A | c.1067A>C | Exon 8 | 11,111,520 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D356V | c.1067A>T | Exon 8 | 11,111,520 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D415G | c.1244A>G | Exon 9 | 11,113,335 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D415H | c.1243G>C | Exon 9 | 11,113,334 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D472Y | c.1414G>T | Exon 10 | 11,113,590 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D482G | c.1445A>G | Exon 10 | 11,113,621 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D482H | c.1444G>C | Exon 10 | 11,113,620 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D482N | c.1444G>A | Exon 10 | 11,113,620 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D492G | c.1475A>G | Exon 10 | 11,113,651 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D492H | c.1474G>C | Exon 10 | 11,113,650 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D492N | c.1474G>A | Exon 10 | 11,113,650 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D651N | c.1951G>A | Exon 13 | 11,120,197 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D651Y | c.1951G>T | Exon 13 | 11,120,197 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D700G | c.2099A>G | Exon 14 | 11,120,481 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D700N | c.2098G>A | Exon 14 | 11,120,480 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D707Y | c.2119G>T | Exon 14 | 11,120,501 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E101K | c.301G>A | Exon 3 | 11,102,774 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E113K | c.337G>A | Exon 4 | 11,105,243 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E140K | c.418G>A | Exon 4 | 11,105,324 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E228K | c.682G>A | Exon 4 | 11,105,588 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E228X | c.682G>T | Exon 4 | 11,105,588 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E240K | c.718G>A | Exon 5 | 11,106,588 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E240X | c.718G>T | Exon 5 | 11,106,588 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E288K | c.862G>A | Exon 6 | 11,107,436 | Pathogenic | 3 stars out of 4 reviewed by expert panel |