| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CLCNKB, LOC106501713 (A70D) | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (R135* +1 more) | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | CLCNKB, LOC106501713 (M243fs +1 more) | Deletion (frameshift variant) | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (G268R +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | CLCNKB, LOC106501713 (G301W +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
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