| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126862123, SLC12A1 (V619I) | Single nucleotide variant (missense variant) | Bartter disease type 1 +1 more | |
| | LOC126862123, SLC12A1 (L638F) | Single nucleotide variant (missense variant) | Bartter disease type 1 | |
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