Characteristics of ultra-rare, rare and uncommon variants*
| Location/type of variant | Number of variants | ||
|---|---|---|---|
| Ultra-rare | Rare | Uncommon | |
| Intronic | 206 | 288 | 776 |
| Exonic/missense | 44 | 24 | 54 |
| Noncoding exon | 6 | 5 | 25 |
| 5′ UTR | 8 | 4 | 9 |
| 3′ UTR | 11 | 7 | 20 |
| Intergenic | 5 | 6 | 15 |
| Splicing | 4 | 2 | 5 |
| Exonic/synonymous | 3 | 1 | 2 |
| Upstream | 2 | 0 | 2 |
| Downstream | 0 | 0 | 1 |
| Nonsense | 0 | 0 | 1 |
MAF = minor allele frequency; UTR = untranslated region.
↵* Included are variants found in genes called in at least 2 families (ultra-rare variants, MAF < 0.1%), at least 3 families (rare variants, MAF < 1%), or at least 5 families (uncommon variants, MAF < 5%).