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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%)