Table 3.

Two missense variants that have a complete deficit of homozygous carriers in the population set of 153,054 Icelanders, and are likely causing miscarriage in the homozygous state.

Genea	Variant	MAF Iceland	MAF Europeb	O/E HMZ	ClinVar ID	Previously reported as HMZ	N carrier couplesc	N miscarriage > week 12	N miscarriage < week 12
GNE	p.Asp378Tyr	0.60%	0.03%	0/6	283278	No	9	6/9 (66.7%)	1/5 (20.0%)
GLE1	p.Arg569His	0.82%	0.05%	0/10	6463	No	17	0	7/11 (63.6%)

MAF minor allele frequency, O/E observed/expected, HMZ homozygous.

^aRefSeq transcripts are provided in Supplementary Data 1.

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

^cCarrier couples were identified in the set of 153,054 chip-genotyped Icelanders.