ClinVar Miner

List of variants reported as uncertain significance for Immunodeficiency-centromeric instability-facial anomalies syndrome 2

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ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_014797.3(ZBTB24):c.1750A>T (p.Met584Leu) rs139491074 0.00078
NM_014797.3(ZBTB24):c.1688T>C (p.Ile563Thr) rs142830104 0.00057
NM_014797.3(ZBTB24):c.301G>A (p.Ala101Thr) rs144189559 0.00028
NM_014797.3(ZBTB24):c.1237C>T (p.Arg413Cys) rs149690823 0.00024
NM_014797.3(ZBTB24):c.1154A>G (p.Lys385Arg) rs371071024 0.00019
NM_014797.3(ZBTB24):c.2078G>A (p.Gly693Asp) rs146770659 0.00015
NM_014797.3(ZBTB24):c.334A>G (p.Thr112Ala) rs567279982 0.00010
NM_014797.3(ZBTB24):c.1666G>A (p.Val556Ile) rs778110573 0.00006
NM_014797.3(ZBTB24):c.1715G>A (p.Gly572Glu) rs139726759 0.00006
NM_014797.3(ZBTB24):c.716A>G (p.Tyr239Cys) rs752600909 0.00006
NM_014797.3(ZBTB24):c.730G>C (p.Glu244Gln) rs113516976 0.00006
NM_014797.3(ZBTB24):c.806T>C (p.Leu269Pro) rs748755172 0.00006
NM_014797.3(ZBTB24):c.860A>G (p.Lys287Arg) rs1456427014 0.00006
NM_014797.3(ZBTB24):c.755G>A (p.Arg252Gln) rs200055910 0.00005
NM_014797.3(ZBTB24):c.1498G>T (p.Ala500Ser) rs201725131 0.00004
NM_014797.3(ZBTB24):c.2050C>T (p.His684Tyr) rs200378080 0.00004
NM_014797.3(ZBTB24):c.750G>C (p.Gln250His) rs1008747624 0.00004
NM_014797.3(ZBTB24):c.1204+4C>T rs369193786 0.00003
NM_014797.3(ZBTB24):c.121T>G (p.Leu41Val) rs775440070 0.00003
NM_014797.3(ZBTB24):c.1235A>G (p.His412Arg) rs548726702 0.00003
NM_014797.3(ZBTB24):c.2056G>A (p.Val686Met) rs373326176 0.00003
NM_014797.3(ZBTB24):c.356A>G (p.Tyr119Cys) rs774995879 0.00003
NM_014797.3(ZBTB24):c.788A>G (p.Lys263Arg) rs148296427 0.00003
NM_014797.3(ZBTB24):c.1208A>G (p.His403Arg) rs140690133 0.00002
NM_014797.3(ZBTB24):c.140A>G (p.His47Arg) rs140297798 0.00002
NM_014797.3(ZBTB24):c.1996G>A (p.Asp666Asn) rs766496267 0.00002
NM_014797.3(ZBTB24):c.2068A>G (p.Thr690Ala) rs756260680 0.00002
NM_014797.3(ZBTB24):c.818A>G (p.Gln273Arg) rs764851596 0.00002
NM_014797.3(ZBTB24):c.883C>T (p.Arg295Cys) rs773712148 0.00002
NM_014797.3(ZBTB24):c.944G>C (p.Ser315Thr) rs558624893 0.00002
NM_014797.3(ZBTB24):c.1043G>A (p.Arg348Gln) rs764052384 0.00001
NM_014797.3(ZBTB24):c.1046C>T (p.Pro349Leu) rs377688410 0.00001
NM_014797.3(ZBTB24):c.1060G>A (p.Val354Met) rs145832483 0.00001
NM_014797.3(ZBTB24):c.1145A>G (p.Gln382Arg) rs1232884369 0.00001
NM_014797.3(ZBTB24):c.1217C>T (p.Pro406Leu) rs752335042 0.00001
NM_014797.3(ZBTB24):c.1280C>A (p.Thr427Lys) rs1776258723 0.00001
NM_014797.3(ZBTB24):c.1322A>G (p.Lys441Arg) rs373035965 0.00001
NM_014797.3(ZBTB24):c.1394G>A (p.Gly465Asp) rs1366402467 0.00001
NM_014797.3(ZBTB24):c.1468T>C (p.Phe490Leu) rs756875652 0.00001
NM_014797.3(ZBTB24):c.1501C>T (p.Arg501Cys) rs761036277 0.00001
NM_014797.3(ZBTB24):c.1597G>C (p.Val533Leu) rs779741867 0.00001
NM_014797.3(ZBTB24):c.1748A>G (p.Asn583Ser) rs1236709691 0.00001
NM_014797.3(ZBTB24):c.1787C>T (p.Thr596Met) rs765207865 0.00001
NM_014797.3(ZBTB24):c.1891C>G (p.Gln631Glu) rs1213062476 0.00001
NM_014797.3(ZBTB24):c.1969G>A (p.Glu657Lys) rs1222795316 0.00001
NM_014797.3(ZBTB24):c.2036C>T (p.Pro679Leu) rs776310741 0.00001
NM_014797.3(ZBTB24):c.2069C>T (p.Thr690Met) rs201765821 0.00001
NM_014797.3(ZBTB24):c.397A>C (p.Ser133Arg) rs1315070775 0.00001
NM_014797.3(ZBTB24):c.401C>A (p.Ser134Tyr) rs756413090 0.00001
NM_014797.3(ZBTB24):c.430G>C (p.Gly144Arg) rs755263893 0.00001
NM_014797.3(ZBTB24):c.439G>T (p.Val147Leu) rs766594494 0.00001
NM_014797.3(ZBTB24):c.569A>G (p.Asn190Ser) rs542752221 0.00001
NM_014797.3(ZBTB24):c.620T>C (p.Leu207Pro) rs762302021 0.00001
NM_014797.3(ZBTB24):c.733G>T (p.Asp245Tyr) rs762687481 0.00001
NM_014797.3(ZBTB24):c.767G>A (p.Arg256Gln) rs1023323966 0.00001
NM_014797.3(ZBTB24):c.784G>A (p.Val262Ile) rs540553715 0.00001
NM_014797.3(ZBTB24):c.796G>A (p.Asp266Asn) rs45455100 0.00001
NM_014797.3(ZBTB24):c.871G>A (p.Gly291Ser) rs779905380 0.00001
NM_014797.3(ZBTB24):c.994G>T (p.Ala332Ser) rs1358583858 0.00001
NM_014797.3(ZBTB24):c.1033A>G (p.Thr345Ala) rs2115362083
NM_014797.3(ZBTB24):c.1039G>A (p.Glu347Lys)
NM_014797.3(ZBTB24):c.103T>A (p.Phe35Ile)
NM_014797.3(ZBTB24):c.1058C>T (p.Thr353Ile) rs2115362049
NM_014797.3(ZBTB24):c.1072G>T (p.Ala358Ser)
NM_014797.3(ZBTB24):c.1085A>G (p.Lys362Arg)
NM_014797.3(ZBTB24):c.109T>C (p.Cys37Arg) rs1562305271
NM_014797.3(ZBTB24):c.1133T>C (p.Phe378Ser) rs746455372
NM_014797.3(ZBTB24):c.11C>T (p.Thr4Ile) rs2115367617
NM_014797.3(ZBTB24):c.1202C>T (p.Thr401Ile) rs1776274830
NM_014797.3(ZBTB24):c.1205-7C>T
NM_014797.3(ZBTB24):c.1235A>T (p.His412Leu) rs548726702
NM_014797.3(ZBTB24):c.1249G>A (p.Asp417Asn) rs2115360895
NM_014797.3(ZBTB24):c.1310A>C (p.Glu437Ala)
NM_014797.3(ZBTB24):c.1329C>G (p.Phe443Leu) rs1170480622
NM_014797.3(ZBTB24):c.1340G>A (p.Ser447Asn)
NM_014797.3(ZBTB24):c.134A>G (p.Asn45Ser) rs2115367485
NM_014797.3(ZBTB24):c.135T>G (p.Asn45Lys)
NM_014797.3(ZBTB24):c.1399T>A (p.Cys467Ser)
NM_014797.3(ZBTB24):c.1421C>T (p.Ser474Phe)
NM_014797.3(ZBTB24):c.1444A>G (p.Ile482Val)
NM_014797.3(ZBTB24):c.1465C>G (p.Pro489Ala)
NM_014797.3(ZBTB24):c.1480G>A (p.Glu494Lys)
NM_014797.3(ZBTB24):c.1538G>A (p.Ser513Asn) rs774600416
NM_014797.3(ZBTB24):c.1553C>G (p.Ala518Gly) rs1042762656
NM_014797.3(ZBTB24):c.1583G>A (p.Ser528Asn) rs768489629
NM_014797.3(ZBTB24):c.158C>T (p.Ala53Val)
NM_014797.3(ZBTB24):c.1602G>C (p.Arg534Ser) rs745492894
NM_014797.3(ZBTB24):c.1642G>C (p.Gly548Arg)
NM_014797.3(ZBTB24):c.1676C>G (p.Ser559Cys) rs1776038792
NM_014797.3(ZBTB24):c.1681C>T (p.His561Tyr)
NM_014797.3(ZBTB24):c.1685A>C (p.Asn562Thr) rs2115353269
NM_014797.3(ZBTB24):c.1753A>T (p.Thr585Ser) rs1776035641
NM_014797.3(ZBTB24):c.1762C>A (p.Gln588Lys)
NM_014797.3(ZBTB24):c.1774C>T (p.Leu592Phe) rs1776035047
NM_014797.3(ZBTB24):c.1786A>G (p.Thr596Ala)
NM_014797.3(ZBTB24):c.1811A>G (p.Asn604Ser) rs767566292
NM_014797.3(ZBTB24):c.1849A>G (p.Ile617Val)
NM_014797.3(ZBTB24):c.1856G>A (p.Ser619Asn)
NM_014797.3(ZBTB24):c.1867A>G (p.Ile623Val) rs1030593144
NM_014797.3(ZBTB24):c.1889C>T (p.Ser630Leu) rs1776031803
NM_014797.3(ZBTB24):c.1903G>A (p.Val635Met)
NM_014797.3(ZBTB24):c.1925A>G (p.Lys642Arg) rs754717708
NM_014797.3(ZBTB24):c.1936G>A (p.Glu646Lys) rs1776030137
NM_014797.3(ZBTB24):c.1946A>G (p.His649Arg)
NM_014797.3(ZBTB24):c.1949C>A (p.Ala650Asp)
NM_014797.3(ZBTB24):c.1984A>G (p.Thr662Ala) rs574657385
NM_014797.3(ZBTB24):c.2025G>C (p.Gln675His) rs2115352900
NM_014797.3(ZBTB24):c.2041C>T (p.Pro681Ser)
NM_014797.3(ZBTB24):c.2066C>T (p.Pro689Leu)
NM_014797.3(ZBTB24):c.2094A>G (p.Ter698Trp) rs1554227574
NM_014797.3(ZBTB24):c.22C>G (p.Pro8Ala)
NM_014797.3(ZBTB24):c.233T>A (p.Met78Lys) rs768303189
NM_014797.3(ZBTB24):c.251C>G (p.Ala84Gly)
NM_014797.3(ZBTB24):c.267C>G (p.Ile89Met) rs1776422013
NM_014797.3(ZBTB24):c.309G>C (p.Glu103Asp)
NM_014797.3(ZBTB24):c.332C>T (p.Ala111Val)
NM_014797.3(ZBTB24):c.337G>C (p.Ala113Pro)
NM_014797.3(ZBTB24):c.367A>G (p.Lys123Glu)
NM_014797.3(ZBTB24):c.376A>G (p.Thr126Ala) rs377645525
NM_014797.3(ZBTB24):c.442GTT[1] (p.Val149del)
NM_014797.3(ZBTB24):c.452C>G (p.Ser151Cys)
NM_014797.3(ZBTB24):c.4G>T (p.Ala2Ser)
NM_014797.3(ZBTB24):c.506A>G (p.Asn169Ser)
NM_014797.3(ZBTB24):c.509C>T (p.Thr170Ile)
NM_014797.3(ZBTB24):c.517GAG[1] (p.Glu174del)
NM_014797.3(ZBTB24):c.544GAA[1] (p.Glu183del) rs2115366899
NM_014797.3(ZBTB24):c.607G>C (p.Asp203His) rs2115366792
NM_014797.3(ZBTB24):c.637G>A (p.Ala213Thr) rs1776409512
NM_014797.3(ZBTB24):c.665C>T (p.Thr222Ile) rs1776408526
NM_014797.3(ZBTB24):c.668G>A (p.Cys223Tyr)
NM_014797.3(ZBTB24):c.679A>G (p.Arg227Gly)
NM_014797.3(ZBTB24):c.719A>T (p.Asp240Val)
NM_014797.3(ZBTB24):c.730G>A (p.Glu244Lys) rs113516976
NM_014797.3(ZBTB24):c.745A>C (p.Ser249Arg) rs1776405737
NM_014797.3(ZBTB24):c.746G>A (p.Ser249Asn) rs759148236
NM_014797.3(ZBTB24):c.808G>A (p.Val270Ile) rs1044622834
NM_014797.3(ZBTB24):c.826C>G (p.His276Asp) rs774946276
NM_014797.3(ZBTB24):c.851G>A (p.Gly284Glu) rs2115366446
NM_014797.3(ZBTB24):c.855G>T (p.Arg285Ser) rs143216162
NM_014797.3(ZBTB24):c.85G>A (p.Asp29Asn) rs1187559235
NM_014797.3(ZBTB24):c.863G>A (p.Arg288His)
NM_014797.3(ZBTB24):c.869_877del (p.Gly290_Pro292del)
NM_014797.3(ZBTB24):c.875C>T (p.Pro292Leu) rs1191178280
NM_014797.3(ZBTB24):c.889A>G (p.Lys297Glu) rs2115366344
NM_014797.3(ZBTB24):c.898G>A (p.Gly300Ser) rs2115366334
NM_014797.3(ZBTB24):c.899G>A (p.Gly300Asp) rs2115366329
NM_014797.3(ZBTB24):c.904G>A (p.Val302Ile) rs1448560892
NM_014797.3(ZBTB24):c.917A>G (p.Asn306Ser)
NM_014797.3(ZBTB24):c.943A>G (p.Ser315Gly) rs759942793
NM_014797.3(ZBTB24):c.947A>G (p.His316Arg)
NM_014797.3(ZBTB24):c.952+6G>A rs1776397526
NM_014797.3(ZBTB24):c.99A>T (p.Lys33Asn) rs760806722

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