Top 10 ClinVar genes by number of loss-of-function variants by assembly
| GRCh37 | GRCh38 | T2T-CHM13 | |||
|---|---|---|---|---|---|
| Gene | Number of LoF variants | Gene | Number of LoF variants | Gene | Number of LoF variants |
| MUC4 | 143 | MUC4 | 172 | MUC4 | 245 |
| MUC19 | 99 | MUC3A | 127 | MUC19 | 61 |
| MUC3A | 71 | MUC19 | 100 | MUC2 | 54 |
| MUC16 | 48 | MUC6 | 47 | MAGEC1 | 46 |
| MUC6 | 43 | HLA-DRB1 | 39 | MUC5AC | 46 |
| HLA-DRB1 | 37 | MUC16 | 36 | HLA-DRB1 | 35 |
| HLA-DRB5 | 29 | HLA-DRB5 | 33 | AHNAK2 | 30 |
| ZNF717 | 23 | ZNF717 | 25 | MUC17 | 29 |
| PDE4DIP | 22 | ZNF880 | 19 | NACA | 28 |
| ANKRD36 | 21 | GOLGA6L6 | 18 | IGFN1 | 26 |
[i] (LoF) loss of function.