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Distribution of genetic variant type by familial phenotype
| Variant Type | All variants | Attenuated | Unclassified | Severe |
|---|---|---|---|---|
| Number of families (%) | ||||
| Total variants | 25 | 5 (20) | 12 (48) | 8 (32) |
| Null | 4 (16) | 1 (25) | 2 (50) | 1 (25) |
| Splice site | 8 (32) | 2 (25) | 3 (38) | 3 (38) |
| Missense | 13 (52) | 2 (15) | 8 (54) | 4 (31) |
