| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | KLF1, LOC130063673 (Y197*) | Single nucleotide variant (nonsense) | BLOOD GROUP--LUTHERAN INHIBITOR | |
| | KLF1, LOC130063673 (P190fs) | Deletion (frameshift variant) | BLOOD GROUP--LUTHERAN INHIBITOR | |
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