Table 1.

Details of the six detected UNC93B1 variants.

dbSNP	HGVS-c	HGVS-p	Alternative Allele Count (Frequency)	gnomAD Allele Frequency
rs7149	c.1557C>G	p.Arg519=	253 (23.6%)	16.0%
rs576491436	c.1629G>A	p.Glu543=	1 (0.1%)	5 × 10−4
rs1308430306	c.1651G>A	p.Asp551Asn	1 (0.1%)	8 × 10−6
n.a.	c.1724_1725delinsAG	p.Pro575Gln	8 (0.7%)	n.a.
rs2375182	c.1768G>T	p.Gly590Trp	4 (0.4%)	0.4%
rs964738111	c.1777G>A	p.Gly593Arg	1 (0.1%)	2 × 10−4