From: Identification of RUNX2 variants associated with cleidocranial dysplasia
Variant type | Number of variants (%) | ||
---|---|---|---|
HGMD | The current study | Total | |
Missense/nonsense | 77 (41.8%) | 5 (71.4%) | 82 (42.9%) |
Splicing | 11 (6.0%) | – | 11 (5.8%) |
Small deletions | 44 (23.9%) | 2 (28.6%) | 46 (24.1%) |
Small insertions | 22 (12.0%) | – | 22 (11.5%) |
Small indels | 2 (1.1%) | – | 2 (1.0%) |
Gross deletions | 17 (9.2%) | – | 17 (8.9%) |
Gross insertions/duplications | 5 (2.7%) | – | 5 (2.6%) |
Complex rearrangements | 4 (2.2%) | – | 4 (2.1%) |
Repeat variations | 2 (1.1%) | – | 2 (1.0%) |