ClinVar Miner

List of variants in gene ZBTB18 studied for Intellectual disability, autosomal dominant 22

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_205768.3(ZBTB18):c.1237G>A (p.Ala413Thr) rs140492097 0.00023
NM_205768.3(ZBTB18):c.896A>G (p.Tyr299Cys) rs528142333 0.00008
NM_205768.3(ZBTB18):c.208G>A (p.Asp70Asn) rs373838988 0.00001
NM_205768.3(ZBTB18):c.901A>G (p.Met301Val) rs1297818384 0.00001
GRCh38/hg38 1q44(chr1:244051186-244055631)x1
NM_205768.3(ZBTB18):c.1009C>T (p.Arg337Trp) rs1698422829
NM_205768.3(ZBTB18):c.1054G>A (p.Glu352Lys) rs1698424563
NM_205768.3(ZBTB18):c.1142_1146delinsAACCCT (p.Cys381_Pro382delinsTer) rs2527560158
NM_205768.3(ZBTB18):c.1143C>A (p.Cys381Ter) rs1698428230
NM_205768.3(ZBTB18):c.1147del (p.Leu383fs) rs1698428309
NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter) rs875989786
NM_205768.3(ZBTB18):c.1207del (p.Arg403fs) rs2148557361
NM_205768.3(ZBTB18):c.1210G>A (p.Glu404Lys) rs2148557375
NM_205768.3(ZBTB18):c.1268T>C (p.Leu423Pro) rs2148557490
NM_205768.3(ZBTB18):c.1283T>G (p.Phe428Cys) rs1572531730
NM_205768.3(ZBTB18):c.1301T>C (p.Leu434Pro) rs1553270599
NM_205768.3(ZBTB18):c.1306C>T (p.Arg436Cys) rs1698434969
NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His) rs1572531765
NM_205768.3(ZBTB18):c.1307G>T (p.Arg436Leu) rs1572531765
NM_205768.3(ZBTB18):c.1309C>T (p.His437Tyr) rs2527561061
NM_205768.3(ZBTB18):c.1325C>T (p.Ser442Leu)
NM_205768.3(ZBTB18):c.133C>T (p.Arg45Ter) rs1085307109
NM_205768.3(ZBTB18):c.1347C>G (p.Cys449Trp) rs1698436058
NM_205768.3(ZBTB18):c.1355G>A (p.Cys452Tyr) rs1572531830
NM_205768.3(ZBTB18):c.1378C>T (p.His460Tyr) rs1698437148
NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser) rs797044885
NM_205768.3(ZBTB18):c.1390C>T (p.Arg464Cys) rs750922282
NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His) rs1558149913
NM_205768.3(ZBTB18):c.1391G>C (p.Arg464Pro) rs1558149913
NM_205768.3(ZBTB18):c.1391G>T (p.Arg464Leu) rs1558149913
NM_205768.3(ZBTB18):c.1397_1400dup (p.Val468fs) rs2527561394
NM_205768.3(ZBTB18):c.1403T>C (p.Val468Ala) rs2148557671
NM_205768.3(ZBTB18):c.1406A>G (p.His469Arg) rs2148557675
NM_205768.3(ZBTB18):c.1408A>G (p.Thr470Ala) rs1572531923
NM_205768.3(ZBTB18):c.1411C>T (p.Arg471Cys) rs2527561443
NM_205768.3(ZBTB18):c.1423C>G (p.His475Asp) rs2527561485
NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly) rs1135401770
NM_205768.3(ZBTB18):c.142C>T (p.Arg48Ter) rs1135401770
NM_205768.3(ZBTB18):c.1444C>T (p.Arg482Cys) rs1553270634
NM_205768.3(ZBTB18):c.1454C>T (p.Thr485Met) rs2527561619
NM_205768.3(ZBTB18):c.1465G>T (p.Asp489Tyr) rs1572532005
NM_205768.3(ZBTB18):c.1473C>G (p.Tyr491Ter) rs376898131
NM_205768.3(ZBTB18):c.1478A>G (p.His493Arg) rs2527561750
NM_205768.3(ZBTB18):c.1487A>G (p.Lys496Arg) rs2148557789
NM_205768.3(ZBTB18):c.1493A>C (p.His498Pro) rs1553270640
NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg) rs869312689
NM_205768.3(ZBTB18):c.204_205del (p.Asp70fs) rs2527555293
NM_205768.3(ZBTB18):c.244_246dup (p.Pro82_Ala83insPro) rs1698403157
NM_205768.3(ZBTB18):c.247G>T (p.Ala83Ser)
NM_205768.3(ZBTB18):c.306del (p.Ile103fs) rs2527555688
NM_205768.3(ZBTB18):c.316G>A (p.Val106Met)
NM_205768.3(ZBTB18):c.343A>G (p.Met115Val) rs2527555835
NM_205768.3(ZBTB18):c.397G>T (p.Glu133Ter) rs398122406
NM_205768.3(ZBTB18):c.446A>G (p.Lys149Arg) rs1698407726
NM_205768.3(ZBTB18):c.550del (p.Asp184fs) rs2148556437
NM_205768.3(ZBTB18):c.562G>T (p.Glu188Ter) rs747598258
NM_205768.3(ZBTB18):c.579G>A (p.Trp193Ter) rs2148556497
NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter) rs1064792999
NM_205768.3(ZBTB18):c.599del (p.Asp199_Ser200insTer) rs1060499655
NM_205768.3(ZBTB18):c.602C>T (p.Ala201Val)
NM_205768.3(ZBTB18):c.686_687del (p.Glu229fs) rs2527557571
NM_205768.3(ZBTB18):c.691_692del (p.Leu231fs) rs2527557595
NM_205768.3(ZBTB18):c.753_754del (p.Ser252fs) rs1698415634
NM_205768.3(ZBTB18):c.764_765dup (p.Ser256fs) rs2527557851
NM_205768.3(ZBTB18):c.80G>C (p.Arg27Thr) rs2527554683
NM_205768.3(ZBTB18):c.859G>A (p.Ala287Thr) rs1362432147
NM_205768.3(ZBTB18):c.922G>T (p.Glu308Ter) rs763141634
NM_205768.3(ZBTB18):c.926G>T (p.Ser309Ile) rs1174606871
NM_205768.3(ZBTB18):c.943_944del (p.Arg315fs) rs1085307108
NM_205768.3(ZBTB18):c.962C>T (p.Ala321Val) rs1698421019
NM_205768.3(ZBTB18):c.967_968insG (p.Leu323fs) rs1572531281

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