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Variant identified in patients with early-onset gout.
| ID | Variant | Type | Frequency (allele count) | In silico assessments | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| gnomAD | ExAC | ESP | 1K | Polyphen-2 | MutationTaster | LRT | M-CAP | |||
| II:4 | c.277C>A, p.L93M | Hetero | 0.0032% (8) | 0.0033% (4) | 0 | 0.04% (2) | Damaging | Damaging | Damaging | Possibly pathogenic |
| III:2 | c.277C>A, p.L93M | Hetero | 0.0032% (8) | 0.0033% (4) | 0 | 0.04% (2) | Damaging | Damaging | Damaging | Possibly pathogenic |
