SLC12A3

solute carrier family 12 member 3

Summary

This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants1,312 total

rsidPosition (GRCh37)AllelesClassClinVar
rs805119116:56,897,259C/A——
rs18415102416:56,898,043C/Tupstream gene variant—
rs478473316:56,899,006C/T—benign
rs1330669016:56,899,007G/C—benign
rs20058563116:56,899,143C/T—uncertain significance
rs131908552216:56,899,148A/G—pathogenic
rs136550625916:56,899,152C/G—uncertain significance
rs75282259116:56,899,157C/T—likely benign
rs143243664716:56,899,162C/T—likely benign
rs128485899016:56,899,174G/T—likely benign
rs140103407016:56,899,177T/G—likely benign
rs11798794616:56,899,183C/T—conflicting classifications of pathogenicity
rs14720002416:56,899,184G/C—conflicting classifications of pathogenicity
rs196432297916:56,899,187A/T—uncertain significance
rs214467768716:56,899,189T/G—likely benign
rs214467770116:56,899,190T/C—likely benign
rs134032721916:56,899,192G/A—likely benign
rs36979501916:56,899,198C/A—uncertain significance
rs214467776216:56,899,201G/A—likely benign
rs37405548616:56,899,202C/T—likely pathogenic
rs77659349516:56,899,203G/A—uncertain significance
rs254346826316:56,899,213C/T—likely benign
rs75954905816:56,899,218C/T—likely pathogenic
rs126207630816:56,899,219A/G—likely benign
rs75255126316:56,899,225G/A—likely benign
rs20185064416:56,899,228C/G—conflicting classifications of pathogenicity
rs75167572416:56,899,235G/T—pathogenic
rs3405568116:56,899,240C/T—likely benign
rs135673303216:56,899,246A/G—likely benign
rs214467800816:56,899,249A/G—likely benign
rs139838854916:56,899,253G/T—uncertain significance
rs214467805416:56,899,273C/G—likely benign
rs74649450516:56,899,283A/G—uncertain significance
rs77039228616:56,899,285C/A—likely benign
rs196432787716:56,899,297C/T—likely benign
rs77475330216:56,899,307C/T—conflicting classifications of pathogenicity
rs37316307716:56,899,308G/A—uncertain significance
rs254346873416:56,899,309C/T—likely benign
rs76765234216:56,899,311C/T—uncertain significance
rs141105652816:56,899,312C/T—likely benign
rs37144364416:56,899,326C/Tmissense variantpathogenic
rs75650886616:56,899,327G/A—likely benign
rs93330835416:56,899,330C/T—likely benign
rs75749049616:56,899,331G/C—likely pathogenic
rs125173265716:56,899,332A/G—pathogenic
rs214467826716:56,899,336G/A—likely benign
rs74661930416:56,899,345A/T—likely benign
rs122759982816:56,899,348T/A—pathogenic
rs254346887116:56,899,351G/A—likely benign
rs78050251616:56,899,352C/T—uncertain significance
rs214467834116:56,899,354C/T—likely benign
rs214467835116:56,899,363C/T—likely benign
rs214467841316:56,899,381G/A—likely benign
rs254346897716:56,899,384C/T—likely benign
rs214467844916:56,899,387G/C—likely benign
rs20125550816:56,899,394C/Tmissense variantpathogenic
rs76852723116:56,899,395G/A—pathogenic
rs7675052516:56,899,396G/T—conflicting classifications of pathogenicity
rs15070872716:56,899,399C/T—likely benign
rs76785532316:56,899,402A/G—likely benign
rs147680988216:56,899,405G/T—likely benign
rs139636692116:56,899,408T/C—likely benign
rs214467857616:56,899,414G/A—likely benign
rs159688343116:56,899,415C/T—pathogenic
rs214467859716:56,899,417C/T—likely benign
rs155549915116:56,899,418T/C—likely pathogenic
rs214467866016:56,899,436G/A—likely benign
rs76676709016:56,899,439G/T—likely benign
rs196433346016:56,899,445G/A—likely benign
rs254346920316:56,899,449A/T—likely benign
rs99966216:56,899,508T/Gintron variantlikely benign
rs230447816:56,899,540G/A—likely benign
rs11789888816:56,899,553G/A—likely benign
rs1330667316:56,900,931T/C—benign
rs140004895516:56,900,963G/T—likely benign
rs76335483416:56,900,971T/G—likely benign
rs130748806616:56,900,973G/T—likely benign
rs103505197216:56,900,974G/A—likely benign
rs141516735116:56,900,975C/T—likely benign
rs214468203216:56,900,977G/T—likely benign
rs37745696516:56,900,980A/C—conflicting classifications of pathogenicity
rs88605215616:56,900,985G/A—uncertain significance
rs75004845816:56,900,987A/G—likely benign
rs75573966116:56,900,990C/A—likely benign
rs77955903516:56,900,995A/T—uncertain significance
rs75340217316:56,900,996C/T—likely benign
rs117961225316:56,900,997C/T—likely benign
rs20078333816:56,901,000C/A—uncertain significance
rs91636973816:56,901,002T/A—uncertain significance
rs3500521616:56,901,006C/T—likely benign
rs74719732416:56,901,007T/C—conflicting classifications of pathogenicity
rs146350703016:56,901,011C/G—likely benign
rs54178911716:56,901,021C/T—uncertain significance
rs76853753516:56,901,022G/A—conflicting classifications of pathogenicity
rs86788711716:56,901,032C/T—likely benign
rs20021977816:56,901,033G/T—pathogenic
rs196437442816:56,901,035G/A—likely benign
rs159688581816:56,901,044T/C—likely benign
rs14989032216:56,901,047G/A—likely benign
rs75338379116:56,901,059C/T—uncertain significance

Showing 100 of 1,312 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.