| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | FRAS1, LOC126807088 (R2823C) | Single nucleotide variant (missense variant) | Fraser syndrome 1 | |
| | FRAS1, LOC126807088 (Y2852C) | Single nucleotide variant (missense variant) | Fraser syndrome 1 | |
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