Table 1.

Top 15 conditions with the highest carrier rates in the Southern Chinese population.

Condition	Gene	Count	Rate (%)
Deafness, Autosomal Recessive 1A; DFNB1A	GJB2	378	24.50
Thalassaemia, Alpha-	HBA1/HBA2	38	8.90^a
Spinal Muscular Atrophy, Type I	SMN1	9	2.11^a
Carnitine Deficiency, Systemic primary^b	SLC22A5	32	2.07
Citrullinemia Type II, Neonatal-onset^b	SLC25A13	28	1.81
Wilson’s Disease	ATP7B	27	1.75
Pendred Syndrome	SLC26A4	27	1.75
Krabbe Disease^b	GALC	24	1.56
POLG-Related Disorders	POLG	20	1.30
Usher Syndrome, Type 2A	USH2A	18	1.17
Hb Beta Chain-Related Haemoglobinopathy (including Beta Thalassaemia and Sickle Cell Disease)	HBB	17	1.10
Glycogen Storage Disease, Type Ia	G6PC	14	0.91
Glycogen Storage Disease II	GAA	13	0.84
Phenylketonuria	PAH	12	0.78
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency	MMUT	12	0.78
Cystic Fibrosis	CFTR	12	0.78

^aCarrier rate was calculated from genome sequencing samples (n = 427) but not exome sequencing samples.

^bRecessive Conditions not screened according to ACMG 2021 practice protocol.