By utilizing a targeted gene panel and comprehensive clinical data, we identified two novel heterozygous frameshift PVs in COL1A1 (c.2890_2893del and c.3887del) and one novel heterozygous missense PV in COL1A2 (c.596G>T), whereas no PVs were found in other OI-related genes. This evidence concerns the gene COL1A1 and osteogenesis imperfecta.