NM_001377.3:c.6035C>T

Likely Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference
613091.1	Saudi Arabia	2	NA	Likely Pathogenic	Short-Rib Thoracic Dysplasia 3 with or without Polydactyly	Maddirevula et al. 2018
613091.2	Saudi Arabia	2	NA	Likely Pathogenic	Short-Rib Thoracic Dysplasia 3 with or without Polydactyly	Maddirevula et al. 2018
613091.4	Saudi Arabia	2	NA	Likely Pathogenic	Short-Rib Thoracic Dysplasia 3 with or without Polydactyly	Maddirevula et al. 2018