EFCAB13

EF-hand calcium binding domain 13

Known Variants73 total

rsidPosition (GRCh37)AllelesClassClinVar
rs990530817:45,409,386T/Aintron variant—
rs55945592817:45,410,144G/A——
rs96005325417:45,412,588T/G—uncertain significance
rs3413420817:45,412,629C/T—benign
rs56746938917:45,412,671A/C—uncertain significance
rs75910205417:45,412,686C/T—uncertain significance
rs496831717:45,418,111G/Aregulatory region variant—
rs7856170617:45,421,563G/A—benign
rs75594335917:45,421,630C/T—uncertain significance
rs14414951517:45,422,446C/G—uncertain significance
rs720697117:45,425,115G/T——
rs15049802717:45,425,180A/G—uncertain significance
rs57713949317:45,425,181T/C—likely benign
rs7137730617:45,425,287T/C—benign
rs54140574417:45,438,778A/G—uncertain significance
rs7886564417:45,438,788C/T—benign
rs78018299417:45,438,797A/G—uncertain significance
rs130997112117:45,438,821G/C—uncertain significance
rs11591780317:45,438,845C/T—uncertain significance
rs7629962017:45,447,802G/A—benign
rs254766250217:45,447,803G/A—uncertain significance
rs77896215717:45,447,820A/G—uncertain significance
rs5585321317:45,447,832A/G—benign
rs206560260617:45,451,867A/G—uncertain significance
rs496831817:45,451,894G/A—benign
rs19055098817:45,451,933T/A—uncertain significance
rs37766791217:45,451,992A/G—likely benign
rs254766469317:45,452,066T/G—uncertain significance
rs54303256117:45,452,103A/G—benign
rs20079495917:45,452,228G/T—uncertain significance
rs20058320117:45,452,237C/G—uncertain significance
rs7496948917:45,452,257A/T—likely benign
rs76893465917:45,452,266G/A—uncertain significance
rs53659334117:45,452,300C/T—uncertain significance
rs55478870617:45,452,303C/T—uncertain significance
rs14449651117:45,452,306C/T—uncertain significance
rs1245323317:45,454,570C/Tintron variant—
rs13918691017:45,456,558G/A—uncertain significance
rs37186226417:45,456,607C/T—uncertain significance
rs14945748217:45,456,681G/Cintron variant—
rs14041684117:45,465,715A/Gintron variant—
rs19171743217:45,467,603T/Cintron variant—
rs76651907017:45,468,827T/C—uncertain significance
rs7282567917:45,468,842A/T—benign
rs11800474217:45,468,858T/G—benign
rs254767379017:45,468,859G/A—uncertain significance
rs7509071017:45,468,871A/G—benign
rs254767536817:45,471,408T/G—uncertain significance
rs721767817:45,471,443G/A—benign
rs36950772017:45,473,191A/G—likely benign
rs7474537817:45,473,229G/A—benign
rs13845103417:45,473,241G/A—uncertain significance
rs74607994617:45,473,246G/A—likely benign
rs20013073117:45,475,835G/C——
rs250875145417:45,479,512C/A—uncertain significance
rs75837601917:45,479,548C/T—uncertain significance
rs37412473017:45,479,549G/A—likely benign
rs75733295317:45,481,265C/T—uncertain significance
rs250875469117:45,481,361A/G—uncertain significance
rs250875622017:45,481,931A/G—uncertain significance
rs989490517:45,485,982C/Tdownstream gene variant—
rs388331817:45,490,251C/T—benign
rs11742126817:45,490,275C/T—benign
rs6207650517:45,497,439A/C——
rs36964865417:45,498,226G/A——
rs991194417:45,498,937G/Tintron variant—
rs127416234017:45,507,187C/T—uncertain significance
rs78101893017:45,517,818A/G—uncertain significance
rs20091039817:45,517,840C/T—benign
rs53860777417:45,517,896G/T—uncertain significance
rs75276718617:45,517,926A/T—uncertain significance
rs36970954217:45,517,950C/T—uncertain significance
rs18498843917:45,518,062C/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.