ClinVar Miner

List of variants in gene ZBTB24 reported as likely benign for immunodeficiency-centromeric instability-facial anomalies syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 232
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HGVS dbSNP gnomAD frequency
NM_014797.3(ZBTB24):c.1702G>A (p.Gly568Ser) rs144754453 0.00093
NM_014797.3(ZBTB24):c.1370+15A>T rs2232445 0.00056
NM_014797.3(ZBTB24):c.1707T>A (p.Pro569=) rs149379400 0.00054
NM_014797.3(ZBTB24):c.1059C>T (p.Thr353=) rs138458833 0.00048
NM_014797.3(ZBTB24):c.1177C>T (p.Leu393=) rs938358665 0.00033
NM_014797.3(ZBTB24):c.1457G>A (p.Gly486Asp) rs568028245 0.00033
NM_014797.3(ZBTB24):c.135T>C (p.Asn45=) rs374383327 0.00024
NM_014797.3(ZBTB24):c.1149C>T (p.Cys383=) rs146710426 0.00018
NM_014797.3(ZBTB24):c.581A>T (p.Asn194Ile) rs200325007 0.00017
NM_014797.3(ZBTB24):c.619C>T (p.Leu207=) rs138617922 0.00013
NM_014797.3(ZBTB24):c.996C>T (p.Ala332=) rs374715015 0.00013
NM_014797.3(ZBTB24):c.222A>G (p.Gln74=) rs779379745 0.00010
NM_014797.3(ZBTB24):c.1734A>G (p.Ala578=) rs753127074 0.00009
NM_014797.3(ZBTB24):c.762C>T (p.Ser254=) rs374544868 0.00009
NM_014797.3(ZBTB24):c.884G>A (p.Arg295His) rs745712680 0.00009
NM_014797.3(ZBTB24):c.1205-14dup rs769813353 0.00008
NM_014797.3(ZBTB24):c.1857C>T (p.Ser619=) rs368528986 0.00006
NM_014797.3(ZBTB24):c.378A>G (p.Thr126=) rs547367901 0.00006
NM_014797.3(ZBTB24):c.630A>G (p.Gln210=) rs142786098 0.00006
NM_014797.3(ZBTB24):c.1047G>A (p.Pro349=) rs374643301 0.00005
NM_014797.3(ZBTB24):c.1209C>T (p.His403=) rs763916544 0.00005
NM_014797.3(ZBTB24):c.15G>T (p.Ser5=) rs751094588 0.00005
NM_014797.3(ZBTB24):c.225C>T (p.Ser75=) rs769918646 0.00004
NM_014797.3(ZBTB24):c.69G>A (p.Val23=) rs764285751 0.00004
NM_014797.3(ZBTB24):c.952+9G>C rs1398350147 0.00004
NM_014797.3(ZBTB24):c.1371-16G>T rs761002010 0.00003
NM_014797.3(ZBTB24):c.978G>A (p.Glu326=) rs747638324 0.00003
NM_014797.3(ZBTB24):c.1128G>A (p.Lys376=) rs768354652 0.00002
NM_014797.3(ZBTB24):c.1370+18T>C rs546453063 0.00002
NM_014797.3(ZBTB24):c.171C>T (p.Ala57=) rs148611752 0.00002
NM_014797.3(ZBTB24):c.1893A>G (p.Gln631=) rs145894539 0.00002
NM_014797.3(ZBTB24):c.858A>G (p.Arg286=) rs749301700 0.00002
NM_014797.3(ZBTB24):c.1008G>A (p.Ser336=) rs1258590264 0.00001
NM_014797.3(ZBTB24):c.1020C>T (p.His340=) rs758752958 0.00001
NM_014797.3(ZBTB24):c.1121-9T>C rs577387603 0.00001
NM_014797.3(ZBTB24):c.1146A>G (p.Gln382=) rs746345312 0.00001
NM_014797.3(ZBTB24):c.1155A>G (p.Lys385=) rs1329909423 0.00001
NM_014797.3(ZBTB24):c.1350G>A (p.Gln450=) rs140757038 0.00001
NM_014797.3(ZBTB24):c.1665C>T (p.Leu555=) rs546872315 0.00001
NM_014797.3(ZBTB24):c.1788G>A (p.Thr596=) rs371830905 0.00001
NM_014797.3(ZBTB24):c.1836G>A (p.Glu612=) rs138493459 0.00001
NM_014797.3(ZBTB24):c.1974C>G (p.Leu658=) rs778943402 0.00001
NM_014797.3(ZBTB24):c.235C>T (p.Leu79=) rs746668886 0.00001
NM_014797.3(ZBTB24):c.360C>T (p.Asp120=) rs1487539368 0.00001
NM_014797.3(ZBTB24):c.444T>G (p.Val148=) rs1217820174 0.00001
NM_014797.3(ZBTB24):c.540A>G (p.Ala180=) rs1776412658 0.00001
NM_014797.3(ZBTB24):c.561A>G (p.Arg187=) rs1214916547 0.00001
NM_014797.3(ZBTB24):c.627G>A (p.Glu209=) rs371375944 0.00001
NM_014797.3(ZBTB24):c.657G>A (p.Ser219=) rs138421963 0.00001
NM_014797.3(ZBTB24):c.1023C>A (p.Thr341=)
NM_014797.3(ZBTB24):c.1056C>T (p.Cys352=)
NM_014797.3(ZBTB24):c.105C>T (p.Phe35=)
NM_014797.3(ZBTB24):c.1062G>A (p.Val354=)
NM_014797.3(ZBTB24):c.1065C>T (p.Cys355=)
NM_014797.3(ZBTB24):c.1074T>C (p.Ala358=)
NM_014797.3(ZBTB24):c.1083C>G (p.Thr361=)
NM_014797.3(ZBTB24):c.1093C>T (p.Leu365=)
NM_014797.3(ZBTB24):c.1098G>A (p.Leu366=)
NM_014797.3(ZBTB24):c.1110C>T (p.Ser370=)
NM_014797.3(ZBTB24):c.1116C>T (p.His372=) rs1044799610
NM_014797.3(ZBTB24):c.1120+14C>T
NM_014797.3(ZBTB24):c.1120+18G>A
NM_014797.3(ZBTB24):c.1120+18G>T
NM_014797.3(ZBTB24):c.1120+20G>T
NM_014797.3(ZBTB24):c.1120+8G>C
NM_014797.3(ZBTB24):c.1121-13G>T
NM_014797.3(ZBTB24):c.1121-14_1121-12del rs762276149
NM_014797.3(ZBTB24):c.1121-16T>C
NM_014797.3(ZBTB24):c.1121-20_1121-19insTAAAACA rs767923224
NM_014797.3(ZBTB24):c.1137C>T (p.Thr379=)
NM_014797.3(ZBTB24):c.1179A>G (p.Leu393=) rs926989674
NM_014797.3(ZBTB24):c.1204+12T>G
NM_014797.3(ZBTB24):c.1204+18C>T
NM_014797.3(ZBTB24):c.1205-14A>G
NM_014797.3(ZBTB24):c.1205-6G>A rs1353189717
NM_014797.3(ZBTB24):c.1205-7C>G
NM_014797.3(ZBTB24):c.120T>C (p.Thr40=)
NM_014797.3(ZBTB24):c.120T>G (p.Thr40=)
NM_014797.3(ZBTB24):c.1218G>A (p.Pro406=)
NM_014797.3(ZBTB24):c.1230C>T (p.Asp410=)
NM_014797.3(ZBTB24):c.1254G>A (p.Val418=)
NM_014797.3(ZBTB24):c.1261C>T (p.Leu421=)
NM_014797.3(ZBTB24):c.1263A>G (p.Leu421=) rs1776259048
NM_014797.3(ZBTB24):c.1269A>G (p.Lys423=)
NM_014797.3(ZBTB24):c.126C>T (p.Ile42=)
NM_014797.3(ZBTB24):c.1288+10C>G
NM_014797.3(ZBTB24):c.1288+11A>G
NM_014797.3(ZBTB24):c.1288+15C>T
NM_014797.3(ZBTB24):c.1288+16G>A
NM_014797.3(ZBTB24):c.1288+16G>T
NM_014797.3(ZBTB24):c.1288+18C>G
NM_014797.3(ZBTB24):c.1288+18C>T
NM_014797.3(ZBTB24):c.1288+20G>A
NM_014797.3(ZBTB24):c.1288+20G>C
NM_014797.3(ZBTB24):c.1289-11G>T
NM_014797.3(ZBTB24):c.1289-13T>A
NM_014797.3(ZBTB24):c.1289-17G>T
NM_014797.3(ZBTB24):c.1289-17_1289-14del
NM_014797.3(ZBTB24):c.1289-23GTTTTT[2] rs765964812
NM_014797.3(ZBTB24):c.1289-23GTTTTT[4] rs765964812
NM_014797.3(ZBTB24):c.1289-23_1289-20del
NM_014797.3(ZBTB24):c.1289-32_1289-19del
NM_014797.3(ZBTB24):c.1296G>A (p.Lys432=)
NM_014797.3(ZBTB24):c.129G>A (p.Val43=)
NM_014797.3(ZBTB24):c.1320C>G (p.Gly440=)
NM_014797.3(ZBTB24):c.1335A>C (p.Ala445=)
NM_014797.3(ZBTB24):c.1338G>A (p.Lys446=)
NM_014797.3(ZBTB24):c.1341T>C (p.Ser447=)
NM_014797.3(ZBTB24):c.1356C>T (p.His452=)
NM_014797.3(ZBTB24):c.1370+11G>A
NM_014797.3(ZBTB24):c.1370+17A>G
NM_014797.3(ZBTB24):c.1371-4dup
NM_014797.3(ZBTB24):c.1371-7C>G
NM_014797.3(ZBTB24):c.1383A>G (p.Pro461=)
NM_014797.3(ZBTB24):c.1395C>T (p.Gly465=)
NM_014797.3(ZBTB24):c.1413C>T (p.Phe471=)
NM_014797.3(ZBTB24):c.1437A>G (p.Arg479=)
NM_014797.3(ZBTB24):c.1443C>T (p.Cys481=)
NM_014797.3(ZBTB24):c.1470C>T (p.Phe490=)
NM_014797.3(ZBTB24):c.1473C>T (p.Ser491=)
NM_014797.3(ZBTB24):c.1482G>A (p.Glu494=)
NM_014797.3(ZBTB24):c.1488C>T (p.Asn496=)
NM_014797.3(ZBTB24):c.150C>G (p.Ala50=)
NM_014797.3(ZBTB24):c.1518G>A (p.Lys506=)
NM_014797.3(ZBTB24):c.1539C>T (p.Ser513=)
NM_014797.3(ZBTB24):c.153C>T (p.His51=)
NM_014797.3(ZBTB24):c.1557A>G (p.Ser519=)
NM_014797.3(ZBTB24):c.1593A>T (p.Glu531Asp)
NM_014797.3(ZBTB24):c.15G>A (p.Ser5=)
NM_014797.3(ZBTB24):c.1623A>G (p.Pro541=)
NM_014797.3(ZBTB24):c.1623A>T (p.Pro541=)
NM_014797.3(ZBTB24):c.1629A>G (p.Gln543=)
NM_014797.3(ZBTB24):c.1641G>A (p.Ser547=)
NM_014797.3(ZBTB24):c.1671C>T (p.Thr557=)
NM_014797.3(ZBTB24):c.1683T>C (p.His561=) rs369925142
NM_014797.3(ZBTB24):c.1686C>T (p.Asn562=) rs1025951778
NM_014797.3(ZBTB24):c.1689C>T (p.Ile563=) rs1344228806
NM_014797.3(ZBTB24):c.1707T>C (p.Pro569=)
NM_014797.3(ZBTB24):c.1716A>C (p.Gly572=)
NM_014797.3(ZBTB24):c.171C>A (p.Ala57=)
NM_014797.3(ZBTB24):c.171C>G (p.Ala57=)
NM_014797.3(ZBTB24):c.1722C>T (p.Ser574=) rs1296313568
NM_014797.3(ZBTB24):c.1728G>A (p.Val576=)
NM_014797.3(ZBTB24):c.1755T>C (p.Thr585=)
NM_014797.3(ZBTB24):c.1755T>G (p.Thr585=)
NM_014797.3(ZBTB24):c.1767T>C (p.Ala589=)
NM_014797.3(ZBTB24):c.1785C>A (p.Leu595=)
NM_014797.3(ZBTB24):c.1804C>T (p.Leu602=)
NM_014797.3(ZBTB24):c.1806G>T (p.Leu602=)
NM_014797.3(ZBTB24):c.1812T>C (p.Asn604=)
NM_014797.3(ZBTB24):c.1830A>G (p.Gln610=)
NM_014797.3(ZBTB24):c.183C>T (p.Tyr61=)
NM_014797.3(ZBTB24):c.1884G>A (p.Gly628=) rs2115353050
NM_014797.3(ZBTB24):c.189A>G (p.Ser63=)
NM_014797.3(ZBTB24):c.1908C>T (p.His636=)
NM_014797.3(ZBTB24):c.1923C>T (p.Ser641=)
NM_014797.3(ZBTB24):c.1932A>G (p.Thr644=)
NM_014797.3(ZBTB24):c.1953T>C (p.His651=) rs768190156
NM_014797.3(ZBTB24):c.1956A>G (p.Gln652=)
NM_014797.3(ZBTB24):c.1959G>A (p.Glu653=)
NM_014797.3(ZBTB24):c.1974C>T (p.Leu658=)
NM_014797.3(ZBTB24):c.201A>G (p.Ala67=)
NM_014797.3(ZBTB24):c.207G>A (p.Glu69=)
NM_014797.3(ZBTB24):c.210G>T (p.Gly70=)
NM_014797.3(ZBTB24):c.21G>A (p.Glu7=)
NM_014797.3(ZBTB24):c.294T>C (p.Tyr98=)
NM_014797.3(ZBTB24):c.330G>T (p.Leu110=)
NM_014797.3(ZBTB24):c.336T>C (p.Thr112=)
NM_014797.3(ZBTB24):c.345C>T (p.Phe115=)
NM_014797.3(ZBTB24):c.354C>T (p.Val118=)
NM_014797.3(ZBTB24):c.363G>A (p.Leu121=)
NM_014797.3(ZBTB24):c.381C>T (p.Asp127=)
NM_014797.3(ZBTB24):c.384C>T (p.Phe128=)
NM_014797.3(ZBTB24):c.387A>G (p.Gln129=) rs2115367149
NM_014797.3(ZBTB24):c.39T>C (p.Val13=) rs758840016
NM_014797.3(ZBTB24):c.414A>G (p.Thr138=)
NM_014797.3(ZBTB24):c.423C>T (p.Asn141=)
NM_014797.3(ZBTB24):c.426T>G (p.Thr142=)
NM_014797.3(ZBTB24):c.42A>G (p.Val14=)
NM_014797.3(ZBTB24):c.432T>C (p.Gly144=)
NM_014797.3(ZBTB24):c.441G>T (p.Val147=)
NM_014797.3(ZBTB24):c.45C>T (p.His15=)
NM_014797.3(ZBTB24):c.462A>G (p.Lys154=)
NM_014797.3(ZBTB24):c.477G>A (p.Lys159=)
NM_014797.3(ZBTB24):c.489A>G (p.Gly163=)
NM_014797.3(ZBTB24):c.48A>C (p.Ser16=)
NM_014797.3(ZBTB24):c.510A>C (p.Thr170=)
NM_014797.3(ZBTB24):c.51C>T (p.Asp17=) rs376284623
NM_014797.3(ZBTB24):c.546A>G (p.Glu182=)
NM_014797.3(ZBTB24):c.54T>C (p.Ala18=)
NM_014797.3(ZBTB24):c.556T>C (p.Leu186=)
NM_014797.3(ZBTB24):c.588A>G (p.Gln196=)
NM_014797.3(ZBTB24):c.594T>C (p.Phe198=)
NM_014797.3(ZBTB24):c.597G>T (p.Val199=)
NM_014797.3(ZBTB24):c.618A>T (p.Val206=)
NM_014797.3(ZBTB24):c.621G>C (p.Leu207=)
NM_014797.3(ZBTB24):c.624T>C (p.Asn208=)
NM_014797.3(ZBTB24):c.633T>C (p.Ile211=)
NM_014797.3(ZBTB24):c.639A>G (p.Ala213=)
NM_014797.3(ZBTB24):c.645A>G (p.Glu215=)
NM_014797.3(ZBTB24):c.666T>A (p.Thr222=)
NM_014797.3(ZBTB24):c.66T>A (p.Thr22=)
NM_014797.3(ZBTB24):c.678T>C (p.Ser226=) rs1305560029
NM_014797.3(ZBTB24):c.684G>A (p.Glu228=)
NM_014797.3(ZBTB24):c.705A>G (p.Lys235=)
NM_014797.3(ZBTB24):c.729C>T (p.Thr243=)
NM_014797.3(ZBTB24):c.744A>G (p.Ala248=)
NM_014797.3(ZBTB24):c.756A>G (p.Arg252=)
NM_014797.3(ZBTB24):c.769A>C (p.Arg257=)
NM_014797.3(ZBTB24):c.771G>A (p.Arg257=)
NM_014797.3(ZBTB24):c.819A>G (p.Gln273=)
NM_014797.3(ZBTB24):c.843G>A (p.Arg281=)
NM_014797.3(ZBTB24):c.846C>T (p.Ile282=) rs775961471
NM_014797.3(ZBTB24):c.855G>A (p.Arg285=) rs143216162
NM_014797.3(ZBTB24):c.867T>C (p.Pro289=)
NM_014797.3(ZBTB24):c.879G>A (p.Glu293=) rs2115366368
NM_014797.3(ZBTB24):c.894C>T (p.Asp298=) rs2115366337
NM_014797.3(ZBTB24):c.915C>T (p.Tyr305=)
NM_014797.3(ZBTB24):c.930A>G (p.Ala310=)
NM_014797.3(ZBTB24):c.936C>T (p.His312=)
NM_014797.3(ZBTB24):c.948C>T (p.His316=)
NM_014797.3(ZBTB24):c.952+12T>G rs2115366238
NM_014797.3(ZBTB24):c.952+14C>T
NM_014797.3(ZBTB24):c.952+17A>G
NM_014797.3(ZBTB24):c.953-13G>T
NM_014797.3(ZBTB24):c.953-19T>A
NM_014797.3(ZBTB24):c.953-19T>C
NM_014797.3(ZBTB24):c.953-20T>C
NM_014797.3(ZBTB24):c.953-4C>G
NM_014797.3(ZBTB24):c.953-6_953-4del
NM_014797.3(ZBTB24):c.975T>C (p.Asn325=)
NM_014797.3(ZBTB24):c.99A>G (p.Lys33=) rs760806722

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