| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GINS1, LOC130065587 (E18fs) | Indel (frameshift variant +1 more) | Combined immunodeficiency due to GINS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Combined immunodeficiency due to GINS1 deficiency | |
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