| ACE2 | angiotensin converting enzyme 2 |
| ADH | antidiuretic hormone |
| BS | Bartter syndrome |
| BSND | barttin |
| cAMP | cyclic adenosine monophosphate |
| CASR | extracellular calcium-sensing receptor |
| CLCNKA | chloride channel protein ClC-Ka |
| CLCNKB | chloride channel protein ClC-Kb |
| CNVs | copy number variants |
| DCT | distal convoluted tubule |
| ERAD | endoplasmic reticulum-associated degradation |
| GS | Gitelman syndrome |
| MLPA® | Multiplex ligation-dependent amplification probe |
| MVBs | multivesicular bodies |
| NGS | next generation sequencing |
| PGE2 | prostaglandin E2 |
| RAAS | renin-angiotensin-aldosterone system |
| NKCC2 | solute carrier family 12 member 1 |
| NCC | solute carrier family 12 member 3 |
| ROMK | ATP-sensitive inward rectifier potassium channel 1 |
| SNPs | single nucleotide polymorfism |
| TAL | ascending loop of Henle |
| TRPM6 | transient receptor potential cation channel subfamily M member 6 |
| TRPV5 | transient receptor potential cation channel subfamily V |
| UTR | non-translated regions |
| VUS | variants of uncertain significance |
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