Table 1.

Missense variants with a complete deficit of observed homozygous carriers, versus an expected number in the population set of 153,054 Icelanders, that present in homozygous state in the clinical WGS set.

Genea	Position (hg38)	cDNA change	Protein change	MAF Iceland	MAF Europeb	O/E HMZ	AR disease listed on OMIM	ClinVar ID	Previously reported as HMZ
SLC52A2	chr8:144360604	c.1016 T > C	p.Leu339Pro	0.60%	0.01%	0/6	Brown-Vialetto-Van Laere syndrome, type 2	39577	Yes
SLC13A5	chr17:6703031	c.655 G > A	p.Gly219Arg	0.49%	0.03%	0/4	Early infantile epileptic encephalopathy, type 25	140752	Yes
GLB1	chr3:33058265	c.557 A > C	p.Glu186Ala	0.52%	2 × 10−3%	0/4	GM1-gangliosidosis	NA	Yes
CPSF3	chr2:9452920	c.1403 G > A	p.Gly468Glu	0.41%	NA	0/3	NA	NA	No
GNE	chr9:36227397	c.1132 G > T	p.Asp378Tyr	0.60%	0.03%	0/6	GNE-myopathy	283278	No

MAF minor allele frequency, O/E observed/expected, HMZ homozygous, AR autosomal recessive, NA not applicable.

^aRefSeq transcripts are provided in Supplementary Data 1.

^bBased on 64,603 WES/WGS non-Finnish European samples on gnomAD¹³.