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Table 3 Estimated disease prevalence based on allele frequencies of potentially disease-causing variants for each gene

From: Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

Gene

Disease-causing variants

CI in 100,000 (max)

CI in 100,000 (min)

IDUA

259

7.103–7.096

2.479–2.476

IDS

29

0.0108–0.0107

0.00014–0.00013

SGSH

236

2.365–2.363

0.4116–0.4112

NAGLU

225

1.532–1.530

0.366–0.365

HGSNAT

159

1.566–1.565

0.107–0.106

GNS

127

0.459–0.458

0.0549–0.0548

GALNS

224

2.363–2.361

0.25–0.25

GLB1*

225

1.677–1.676

0.456–0.455

ARSB

188

1.119–1.117

0.1761–0.1758

GUSB

224

1.144–1.141

0.2081–0.2078

HYAL1

141

0.4393–0.4388

0.1081–0.1079

  1. *Variants may be associated to GM1 gangliosidosis or to MPS IVB. CI = Confidence interval