CFAP43

cilia and flagella associated protein 43

Summary

This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]

Known Variants145 total

rsidPosition (GRCh37)AllelesClassClinVar
rs122432918010:105,889,943A/G—uncertain significance
rs143375335410:105,889,947C/T—uncertain significance
rs249345242810:105,890,016T/A—uncertain significance
rs127328570110:105,891,149A/G—uncertain significance
rs54029309910:105,891,172T/C—uncertain significance
rs11762892310:105,891,927G/C—likely benign
rs7594186210:105,891,932T/C—benign
rs15003772510:105,892,650A/Gintron variant—
rs132729954710:105,893,468C/T—no classifications from unflagged records
rs14697175710:105,900,601C/T—conflicting classifications of pathogenicity
rs14724105210:105,900,602G/A—uncertain significance
rs126176230310:105,900,647T/C—uncertain significance
rs4561823810:105,900,732C/T—benign
rs75263378610:105,902,071C/T—likely benign
rs37228950910:105,902,111A/G—uncertain significance
rs20127215810:105,903,208T/G—likely benign
rs76883153310:105,903,210G/Cmissense variantpathogenic
rs14899190210:105,903,253T/G—uncertain significance
rs119446296410:105,903,329C/T—uncertain significance
rs249348680010:105,903,356A/T—uncertain significance
rs126697432110:105,903,369T/C—uncertain significance
rs14524857410:105,904,839C/Tintron variant—
rs208791848810:105,905,241G/A—likely pathogenic
rs20181126710:105,905,244G/A—uncertain significance
rs55012498210:105,905,248A/G—likely benign
rs20078362410:105,905,262G/T—uncertain significance
rs13842387810:105,906,045A/C—pathogenic
rs249349528410:105,906,050G/T—uncertain significance
rs14820433710:105,906,086G/A—likely benign
rs92559076310:105,907,654C/T—uncertain significance
rs15091766910:105,912,391C/T—uncertain significance
rs77116694810:105,912,396C/T—uncertain significance
rs75335255310:105,912,421C/T—uncertain significance
rs75261938810:105,912,447A/G—uncertain significance
rs155486295310:105,912,486T/G—pathogenic
rs76917018610:105,920,805T/C—uncertain significance
rs18510420210:105,920,926G/T—likely benign
rs75326262210:105,921,738T/A—uncertain significance
rs249353793310:105,921,739T/C—uncertain significance
rs74742207310:105,921,742T/G—uncertain significance
rs148368942110:105,921,744A/G—uncertain significance
rs77368272210:105,921,772T/A—uncertain significance
rs76060958010:105,921,781G/Astop gainedpathogenic
rs15101705010:105,922,135C/T—likely benign
rs14645528010:105,923,874G/T—uncertain significance
rs74954038810:105,923,889T/C—uncertain significance
rs14664126410:105,924,008T/C—likely benign
rs13880173710:105,926,314A/C—benign
rs76769367710:105,926,385T/C—uncertain significance
rs213482873410:105,926,400T/C—uncertain significance
rs14935839110:105,926,424C/T—likely benign
rs14467062310:105,926,425G/A—uncertain significance
rs19979465610:105,926,472C/T—uncertain significance
rs37391148810:105,927,385A/Tstop gainedpathogenic
rs76936198010:105,927,432T/C—uncertain significance
rs37495683110:105,927,446G/A—uncertain significance
rs20166051710:105,927,450G/A—uncertain significance
rs1775088610:105,927,460T/C—benign
rs74684057510:105,928,522C/T—uncertain significance
rs77075938010:105,928,527A/G—uncertain significance
rs13908035810:105,928,535C/T—pathogenic
rs75230718610:105,928,595A/G—likely benign
rs74689847710:105,928,603T/C—likely benign
rs133655610710:105,932,187C/A—uncertain significance
rs249356650010:105,932,190T/C—uncertain significance
rs14490079310:105,932,207T/C—likely benign
rs140578746810:105,938,823T/G—uncertain significance
rs75747037210:105,938,827C/A—uncertain significance
rs14048181610:105,938,841C/T—benign
rs132705741010:105,938,854T/G—uncertain significance
rs36840421110:105,939,642C/T—uncertain significance
rs14354006810:105,942,141A/T—uncertain significance
rs57013210610:105,942,187C/A—uncertain significance
rs14147600610:105,942,201C/T—likely benign
rs11271992510:105,942,275T/C—benign
rs14580051910:105,944,815A/C—benign
rs124168025110:105,944,838T/C—uncertain significance
rs19392108110:105,944,864T/C—uncertain significance
rs13901569410:105,945,743C/T—conflicting classifications of pathogenicity
rs20215985710:105,945,748C/G—uncertain significance
rs75454741510:105,945,773C/G—uncertain significance
rs14855142410:105,945,873G/A—benign
rs14427435810:105,945,888A/G—benign
rs3590189710:105,947,092G/A—benign
rs142404535610:105,947,122A/G—uncertain significance
rs249360470910:105,947,232T/G—uncertain significance
rs3502139710:105,947,247G/A—conflicting classifications of pathogenicity
rs37007051010:105,948,118C/T—uncertain significance
rs14501203510:105,951,988G/A—likely benign
rs76180967310:105,951,998T/C—uncertain significance
rs75561455510:105,953,625C/T—uncertain significance
rs14496718810:105,953,693A/G—uncertain significance
rs20047796110:105,953,750G/A—uncertain significance
rs76884978210:105,953,760C/G—uncertain significance
rs76044197810:105,953,768G/A—uncertain significance
rs103516756210:105,953,772C/G—uncertain significance
rs14158507310:105,956,656C/G—uncertain significance
rs15089750910:105,956,657C/A—uncertain significance
rs13827427210:105,957,693G/A—conflicting classifications of pathogenicity
rs14960413310:105,957,695T/C—likely benign

Showing 100 of 145 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.