NM_000067.2:c.232+1G>T

Likely Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
259730.3.1	Saudi Arabia	2	NA	Likely Pathogenic	Osteopetrosis, Autosomal Recessive 3	Maddirevula et al. 2018
259730.3.2	Saudi Arabia	2	NA	Likely Pathogenic	Osteopetrosis, Autosomal Recessive 3	Maddirevula et al. 2018	Relative of 259730.3.1
259730.3.3	Saudi Arabia	2	NA	Likely Pathogenic	Osteopetrosis, Autosomal Recessive 3	Maddirevula et al. 2018	Relative of 259730.3.1