201910.30

Lebanon

Congenital adrenal hyperplasia; Ambiguous genitalia, female; ;

Female

Variant Name	Allele Count	Associated Disease
NM_001128590.3:c.428T>A	2	Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
NM_001128590.3:c.629T>A	1	Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
NM_001128590.3:c.620T>A	1	Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
NM_001128590.3:c.623T>A	1	Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency

Carries the CL6 haplotype and an additional mutation