Gene SLC12A3 Details
It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.
Gene: SLC12A3
Disorder: Gitelman syndrome
Allele Frequency: 0.00335008
Carrier Rate: 0.00667772
Max At-Risk Couples rate: 0.0000446
The table below lists all clinically relevant variants identified in the SLC12A3 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 86 |
56899395 |
SLC12A3 |
NM_000339.2:c.248G>A |
p.Arg83Gln |
4 |
0.001675% |
| 214 |
56920916 |
SLC12A3 |
NM_000339.3:c.2089_2095delACCAAGT |
NP_000330.3:p.Thr697Glyfs*2 |
2 |
0.000838% |
| 499 |
56906371 |
SLC12A3 |
NM_000339.3:c.961C>T |
NP_000330.3:p.Arg321Trp |
1 |
0.000419% |
| 500 |
56921844 |
SLC12A3 |
NM_000339.3:c.2186G>T |
NP_000330.3:p.Gly729Val |
1 |
0.000419% |
