NM_014780.5:c.263del

Likely Pathogenic

Pathogenic

Deletion

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
273750.6	Saudi Arabia	2	NA	Pathogenic	Three M Syndrome 1	Maddirevula et al. 2018