Table 2.

Number of variants considered deleterious per category for each gene

	Frameshift**	In-frame insertion/deletion	Splice site**	Start loss	Stop gain**	Stop loss**	Missense**	Total**
IDUA	17–18	12	16–37	1	10–15	0–1	86–175	142–259
IDS	0	1	1–2	0	0	0	4–28	6–31
SGSH	8–14	7	5–7	0	4–14	0	73–194	97–236
NAGLU	11–20	2	6–10	1	8–16	0	87–176	115–225
HGSNAT	11	4	22–37	0	8–9	0	18–98	63–159
GNS	5	3	14–23	0	4	0–1	29–91	55–127
GALNS	11	7	14–26	1	10–11	0–1	57–187	100–244
GLB1*	12–13	3	18–34	1	11–13	0	67–161	112–225
ARSB	9–12	5	10–18	0	8–12	0	48–141	80–188
GUSB	11–13	6	17–27	2	13–14	0–2	62–160	111–224
HYAL1	12–13	8	1–3	1	8–9	0	57–107	87–141
All genes	107–130	58	124–224	7	84–117	0–5	588–1515	968—2059

*Variants may be associated with GM1 Gangliosidosis or to MPS IVB

**Numbers represent minimum and maximum frequencies. In the case of frameshift, stop gain or stop loss minimum frequency excludes variants in the last exon or located < 50 nucleotides upstream of the 3’ most splice-generated exon-exon junction. For splice site and missense variants, minimum frequency considers only variants deemed pathogenic by a consensus of all software packages