Variants
LDLR variants
Predicted effect: Frameshift. 189 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 | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A612Rfs*50 | c.1830_1839del | Exon 12 | 11,116,980 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E763Gfs*19 | c.2287dup | Exon 15 | 11,123,318 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K816Rfs*113 | c.2442del | Exon 17 | 11,129,563 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N321Tfs*49 | c.962del | Exon 7 | 11,110,671 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V800Gfs*124 | c.2397_2412del | Exon 17 | 11,129,519 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V806Gfs*11 | c.2416dup | Exon 17 | 11,129,534 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A13Rfs*40 | c.33_36dup | Exon 1 | 11,089,579 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A151Rfs*29 | c.450dup | Exon 4 | 11,105,353 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A299Vfs*71 | c.896del | Exon 6 | 11,107,469 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A348Pfs*22 | c.1042del | Exon 7 | 11,110,751 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A459Qfs*9 | c.1371_1374dup | Exon 10 | 11,113,544 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A475Tfs*32 | c.1423_1424delinsA | Exon 10 | 11,113,599 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A480Vfs*27 | c.1439del | Exon 10 | 11,113,614 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A606Lfs*6 | c.1815_1825del | Exon 12 | 11,116,965 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A627Pfs*38 | c.1878del | Exon 13 | 11,120,122 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A697Cfs*6 | c.2085_2103del | Exon 14 | 11,120,465 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A755Gfs*7 | c.2264_2273del | Exon 15 | 11,123,294 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.9del | Exon 1 | 11,089,554 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.971del | Exon 7 | 11,110,680 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1120_1123dup | Exon 8 | 11,111,571 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C39Mfs*13 | c.114dup | Exon 2 | 11,100,266 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C82Afs*124 | c.244del | Exon 3 | 11,102,716 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C104Pfs*101 | c.310_313del | Exon 3 | 11,102,781 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C128Tfs*77 | c.382_385del | Exon 4 | 11,105,287 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C173Sfs*33 | c.518del | Exon 4 | 11,105,423 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C204Afs*2 | c.609del | Exon 4 | 11,105,514 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C216Vfs*49 | c.646del | Exon 4 | 11,105,551 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C261Afs*4 | c.781del | Exon 5 | 11,106,650 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C276Rfs*24 | c.825_826del | Exon 6 | 11,107,396 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C289Afs*81 | c.865del | Exon 6 | 11,107,438 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C302Sfs*68 | c.905del | Exon 6 | 11,107,478 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C340Vfs*18 | c.1017dup | Exon 7 | 11,110,727 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C358Sfs*13 | c.1070_1071dup | Exon 8 | 11,111,521 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C677Sfs*28 | c.2030_2042del | Exon 14 | 11,120,411 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C698Afs*11 | c.2092del | Exon 14 | 11,120,473 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D36Efs*170 | c.108del | Exon 2 | 11,100,262 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D72Tfs*134 | c.214del | Exon 3 | 11,102,683 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D118Vfs*88 | c.353del | Exon 4 | 11,105,258 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D172Rfs*8 | c.513dup | Exon 4 | 11,105,415 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D172Tfs*34 | c.513del | Exon 4 | 11,105,415 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D178Efs*31 | c.526_533dup | Exon 4 | 11,105,431 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D178Vfs*2 | c.532_533insT | Exon 4 | 11,105,438 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D193Afs*13 | c.578del | Exon 4 | 11,105,483 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D221Tfs*44 | c.660del | Exon 4 | 11,105,562 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D227Afs*34 | c.680_692del | Exon 4 | 11,105,582 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D227Afs*38 | c.680_682delinsCA | Exon 4 | 11,105,586 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D227Efs*38 | c.681del | Exon 4 | 11,105,586 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D227Gfs*12 | c.680_681del | Exon 4 | 11,105,585 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D293Gfs*8 | c.875dup | Exon 6 | 11,107,448 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D307Vfs*3 | c.916_919dup | Exon 6 | 11,107,488 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D356Vfs*14 | c.1067del | Exon 8 | 11,111,519 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D362Afs*8 | c.1085del | Exon 8 | 11,111,537 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D502Gfs*34 | c.1502dup | Exon 10 | 11,113,677 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D569Ifs*96 | c.1705del | Exon 11 | 11,116,211 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D616Tfs*49 | c.1845del | Exon 12 | 11,116,997 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D638Mfs*27 | c.1911del | Exon 13 | 11,120,155 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D651Efs*16 | c.1948_1952dup | Exon 13 | 11,120,192 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E101Dfs*105 | c.303del | Exon 3 | 11,102,775 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E113Vfs*88 | c.338_353del | Exon 4 | 11,105,243 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E228Ifs*2 | c.675_681dup | Exon 4 | 11,105,580 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E228Rfs*37 | c.682del | Exon 4 | 11,105,587 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E228Rfs*42 | c.668_681dup | Exon 4 | 11,105,573 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E312Sfs*58 | c.933del | Exon 6 | 11,107,504 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E312Vfs*19 | c.935_936del | Exon 6 | 11,107,506 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E723Rfs*7 | c.2167del | Exon 15 | 11,123,198 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F114Lfs*14 | c.340_344del | Exon 4 | 11,105,244 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F114Vfs*16 | c.339dup | Exon 4 | 11,105,244 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F344Sfs*26 | c.1031del | Exon 7 | 11,110,740 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F403Hfs*37 | c.1206_1207del | Exon 9 | 11,113,295 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F403Lfs*10 | c.1209del | Exon 9 | 11,113,299 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F403Sfs*10 | c.1208del | Exon 9 | 11,113,297 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F512Ifs*24 | c.1533dup | Exon 10 | 11,113,708 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F629Sfs*36 | c.1886del | Exon 13 | 11,120,128 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F807Lfs*10 | c.2417_2418insG | Exon 17 | 11,129,540 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G76Vfs*128 | c.227_233del | Exon 3 | 11,102,698 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G77Afs*129 | c.230del | Exon 3 | 11,102,698 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G186Vfs*20 | c.557del | Exon 4 | 11,105,459 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G218Vfs*47 | c.653del | Exon 4 | 11,105,557 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G324Afs*46 | c.969del | Exon 7 | 11,110,679 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G461Afs*46 | c.1382del | Exon 10 | 11,113,556 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G537Efs*11 | c.1610del | Exon 11 | 11,116,113 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G546Afs*2 | c.1632del | Exon 11 | 11,116,136 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G573Afs*92 | c.1718del | Exon 12 | 11,116,869 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G593Afs*72 | c.1778del | Exon 12 | 11,116,926 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G676Afs*33 | c.2027del | Exon 14 | 11,120,407 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H327Qfs*5 | c.980dup | Exon 7 | 11,110,690 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H327Tfs*43 | c.979del | Exon 7 | 11,110,687 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H388Tfs*25 | c.1162del | Exon 8 | 11,111,610 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H460Afs*46 | c.1377_1380del | Exon 10 | 11,113,551 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H656Sfs*11 | c.1961_1965dup | Exon 13 | 11,120,203 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H690Pfs*27 | c.2068dup | Exon 14 | 11,120,445 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H690Tfs*19 | c.2068del | Exon 14 | 11,120,445 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H837Tfs*92 | c.2509del | Exon 17 | 11,129,630 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I83Mfs*47 | c.249delinsGG | Exon 3 | 11,102,722 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I161Sfs*43 | c.482_488del | Exon 4 | 11,105,385 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I210Afs*56 | c.625_626dup | Exon 4 | 11,105,529 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I355Afs*18 | c.1053_1060dup | Exon 7 | 11,110,757 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I585Sfs*80 | c.1752del | Exon 12 | 11,116,903 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I623Nfs*22 | c.1867dup | Exon 13 | 11,120,112 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I764Mfs*2 | c.2292del | Exon 15 | 11,123,324 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |