Skip to main content

Table 4 Summarization of RUNX2 gene variants in the HGMD and current study

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%)