Table 1.
Number of variants in each gene present in ExAC and gnomAD
| MPS type | Gene | ExAC variants | gnomAD variants | Common | Retained variants** |
|---|---|---|---|---|---|
| MPS I | IDUA | 1246 | 1439 | 680 | 2005 |
| MPS II | IDS | 300 | 920 | 259 | 961 |
| MPS IIIA | SGSH | 1188 | 1400 | 545 | 2043 |
| MPS IIIB | NAGLU | 640 | 805 | 397 | 1048 |
| MPS IIIC | HGSNAT | 598 | 1456 | 521 | 1533 |
| MPS IIID | GNS | 429 | 1116 | 404 | 1141 |
| MPS IVA | GALNS | 1390 | 2254 | 656 | 2988 |
| MPS IVB | GLB1* | 871 | 1322 | 564 | 1629 |
| MPS VI | ARSB | 407 | 1122 | 370 | 1159 |
| MPS VII | GUSB | 593 | 1067 | 519 | 1141 |
| MPS IX | HYAL1 | 669 | 700 | 287 | 1082 |
*Variants may be associated with GM1 Gangliosidosis or with MPS IVB
**Retained variants represent unique variants after merging both databases