201910.14

Tunisia

Congenital adrenal hyperplasia; Renal salt wasting;

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Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001128590.3:c.428T>A	1		Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
NM_001128590.3:c.865C>T	1		Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency

Compound heterozygote