T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population

Table 2.

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

  • (LoF) loss of function.

This Article

  1. Published in Advance September 16, 2025, doi: 10.1101/gr.279320.124 Genome Res. 35: 2377-2388

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