Table 1. Non-synonymous ABCB6 variants identified in the cohort.

Haem synthesis defect	Number of patients	ABCB6 non-synonymous variant (number detected)	% MAF (European American)	NCBI dbSNP ID
HMBS	18	A492T (1)	0.907	rs147445258
		G588S (2)	0.663	rs145526996
		A681T (1)	0.081	rs142421126
CPOX	10	R192Q (1*)	0.419	rs150221689
PPOX	7	R276W (2)	1.327	rs57467915
FECH	1	T521S (1)	0.395	rs149363094
Total	36	8

MAF, minor allele frequency; NCBI, National Center for Biotechnology Information.

Variant information and their MAF in European Americans are summarized.

^*Asymptomatic patient.