GATA3

GATA binding protein 3

Summary

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]

Known Variants271 total

rsidPosition (GRCh37)AllelesClassClinVar
rs414309410:8,089,136T/Gintergenic variant—
rs40302910:8,090,001G/T——
rs50176410:8,093,034G/Tcoding sequence variant—
rs126948610:8,096,199A/T——
rs148614528210:8,096,663G/T—uncertain significance
rs55634715010:8,096,729G/C—uncertain significance
rs54052701310:8,096,811C/T—uncertain significance
rs88604729710:8,097,239C/T—uncertain significance
rs13851291510:8,097,260G/A—likely benign
rs3462895110:8,097,268C/T—benign
rs88604729810:8,097,332G/A—uncertain significance
rs3597100310:8,097,355G/T—benign
rs1090527710:8,097,368A/G—benign
rs88604729910:8,097,471A/G—uncertain significance
rs36982593510:8,097,524G/T—benign
rs56936056010:8,097,539C/T—uncertain significance
rs2839579410:8,097,550G/A—benign
rs1156788710:8,097,559C/T—benign
rs41235910:8,097,561C/T—benign
rs1156794210:8,097,570C/T—benign
rs55451799010:8,097,571G/T—likely benign
rs20117856610:8,097,579G/A—uncertain significance
rs127493211910:8,097,628A/G—uncertain significance
rs53668581210:8,097,636C/T—likely benign
rs213148219710:8,097,646T/G—uncertain significance
rs76393499210:8,097,651G/C—likely benign
rs75714971610:8,097,663C/A—uncertain significance
rs93265771810:8,097,669C/G—likely benign
rs141542682610:8,097,670G/A—uncertain significance
rs98544586410:8,097,671T/G—uncertain significance
rs101454299610:8,097,673C/T—uncertain significance
rs74990078410:8,097,675C/T—conflicting classifications of pathogenicity
rs13834559610:8,097,687C/T—benign
rs148572472310:8,097,689C/T—uncertain significance
rs20216896710:8,097,690G/A—likely benign
rs213148253210:8,097,696G/T—likely benign
rs86829211410:8,097,699C/T—likely benign
rs20204570110:8,097,700C/A—conflicting classifications of pathogenicity
rs213148258110:8,097,702C/T—likely benign
rs158837487410:8,097,707G/A—uncertain significance
rs74747796210:8,097,730G/C—likely benign
rs143669261310:8,097,740A/C—uncertain significance
rs74599718310:8,097,745C/T—likely benign
rs213148285310:8,097,759G/C—likely benign
rs213148287210:8,097,765G/A—likely benign
rs77574577110:8,097,766C/T—uncertain significance
rs76317605610:8,097,781G/A—uncertain significance
rs213148296810:8,097,787G/A—uncertain significance
rs37185327010:8,097,806A/G—uncertain significance
rs77415415410:8,097,823A/G—uncertain significance
rs76167649910:8,097,827C/A—uncertain significance
rs158837512410:8,097,828C/G—likely benign
rs76760925310:8,097,831G/C—likely benign
rs56053155910:8,097,834G/T—likely benign
rs213148317210:8,097,837G/C—uncertain significance
rs100476592010:8,097,851C/A—uncertain significance
rs37650586310:8,097,867C/T—benign
rs75344998010:8,097,868G/T—likely benign
rs75459489510:8,097,871C/T—likely benign
rs36927519710:8,097,888C/T—likely benign
rs789400610:8,098,185A/G—benign
rs139918010:8,098,719T/A——
rs1156789410:8,100,048C/T—likely benign
rs382466710:8,100,125A/G—benign
rs76063617110:8,100,255C/T—likely benign
rs108530763310:8,100,267G/C—pathogenic
rs37199216810:8,100,280G/A—uncertain significance
rs124513731410:8,100,283G/A—uncertain significance
rs124125577610:8,100,286C/G—uncertain significance
rs213148820710:8,100,299T/A—uncertain significance
rs213148823610:8,100,306C/T—likely benign
rs14422101610:8,100,320C/T—likely benign
rs76858393510:8,100,321G/A—uncertain significance
rs183267998310:8,100,333C/G—uncertain significance
rs158837769010:8,100,348A/G—uncertain significance
rs53533129110:8,100,350C/T—likely benign
rs183268100410:8,100,353C/T—uncertain significance
rs11197841510:8,100,356C/T—likely benign
rs76789947710:8,100,368C/T—likely benign
rs75073530810:8,100,385C/T—conflicting classifications of pathogenicity
rs53549208510:8,100,399G/A—uncertain significance
rs14245149410:8,100,401C/T—likely benign
rs126895133810:8,100,409G/A—uncertain significance
rs99119473710:8,100,420G/C—uncertain significance
rs77238808110:8,100,425C/T—likely benign
rs74573487310:8,100,437G/C—likely benign
rs57537421710:8,100,447T/C—likely benign
rs20031791810:8,100,452G/T—likely benign
rs75438670010:8,100,457G/A—uncertain significance
rs76539225510:8,100,461C/T—benign
rs75277908110:8,100,462G/A—uncertain significance
rs58777837910:8,100,474C/A—uncertain significance
rs129136768210:8,100,480A/C—uncertain significance
rs128622041510:8,100,490C/T—uncertain significance
rs213148946010:8,100,496C/T—uncertain significance
rs158837811710:8,100,499C/T—uncertain significance
rs14362775410:8,100,506C/G—conflicting classifications of pathogenicity
rs56186652310:8,100,509C/G—likely benign
rs76677412510:8,100,515G/A—conflicting classifications of pathogenicity
rs183268860010:8,100,518C/T—uncertain significance

Showing 100 of 271 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.