ClinVar Miner

List of variants in gene ZIC2 reported as uncertain significance for holoprosencephaly

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007129.5(ZIC2):c.1454C>T (p.Ala485Val) rs1355270815 0.00014
NM_007129.5(ZIC2):c.1361C>T (p.Ser454Phe) rs969318004 0.00003
NM_007129.5(ZIC2):c.553G>A (p.Gly185Ser) rs543003846 0.00003
NM_007129.5(ZIC2):c.157G>C (p.Ala53Pro) rs867965997 0.00002
NM_007129.5(ZIC2):c.80C>T (p.Ala27Val) rs781249527 0.00002
NM_007129.5(ZIC2):c.1338G>T (p.Glu446Asp) rs754212151 0.00001
NM_007129.5(ZIC2):c.1439C>T (p.Ser480Leu) rs2053262180 0.00001
NM_007129.5(ZIC2):c.265G>C (p.Ala89Pro) rs2053238740 0.00001
NM_007129.5(ZIC2):c.418G>C (p.Gly140Arg) rs1164231504 0.00001
NM_007129.5(ZIC2):c.914A>T (p.Glu305Val) rs897501049 0.00001
NM_007129.5(ZIC2):c.1012C>T (p.Pro338Ser)
NM_007129.5(ZIC2):c.1019G>C (p.Cys340Ser) rs2053244781
NM_007129.5(ZIC2):c.1036C>T (p.Arg346Cys)
NM_007129.5(ZIC2):c.1037G>T (p.Arg346Leu)
NM_007129.5(ZIC2):c.1041C>A (p.Ser347=) rs2152162782
NM_007129.5(ZIC2):c.1058_1059delinsCT (p.His353Pro) rs2053244892
NM_007129.5(ZIC2):c.1073C>A (p.Thr358Lys) rs2152162790
NM_007129.5(ZIC2):c.1074A>G (p.Thr358=)
NM_007129.5(ZIC2):c.1096G>A (p.Glu366Lys) rs2053256269
NM_007129.5(ZIC2):c.109G>A (p.Asp37Asn)
NM_007129.5(ZIC2):c.1103A>T (p.Glu368Val)
NM_007129.5(ZIC2):c.112C>G (p.Arg38Gly)
NM_007129.5(ZIC2):c.1151T>C (p.Met384Thr)
NM_007129.5(ZIC2):c.1239+6A>G
NM_007129.5(ZIC2):c.1255C>A (p.Pro419Thr)
NM_007129.5(ZIC2):c.1256C>T (p.Pro419Leu)
NM_007129.5(ZIC2):c.1257_1258delinsAA (p.Gln420Lys) rs2152163712
NM_007129.5(ZIC2):c.1282G>T (p.Ala428Ser)
NM_007129.5(ZIC2):c.1307C>T (p.Thr436Met) rs2152163743
NM_007129.5(ZIC2):c.1310C>T (p.Pro437Leu)
NM_007129.5(ZIC2):c.1316G>A (p.Gly439Glu)
NM_007129.5(ZIC2):c.1330A>G (p.Ser444Gly) rs1402415693
NM_007129.5(ZIC2):c.1332C>A (p.Ser444Arg)
NM_007129.5(ZIC2):c.1365AGCGGCGGCGGC[3] (p.Ala470_Val471insAlaAlaAlaAla)
NM_007129.5(ZIC2):c.1415_1423dup (p.Val474_His475insProAlaVal)
NM_007129.5(ZIC2):c.1432G>A (p.Gly478Arg)
NM_007129.5(ZIC2):c.143G>A (p.Gly48Asp) rs771466003
NM_007129.5(ZIC2):c.143G>C (p.Gly48Ala)
NM_007129.5(ZIC2):c.1442G>T (p.Gly481Val)
NM_007129.5(ZIC2):c.1445G>A (p.Ser482Asn)
NM_007129.5(ZIC2):c.1457G>A (p.Gly486Glu)
NM_007129.5(ZIC2):c.1468GGC[5] (p.Gly492_Ser493insGlyGly)
NM_007129.5(ZIC2):c.1474G>T (p.Gly492Cys)
NM_007129.5(ZIC2):c.147C>G (p.Phe49Leu)
NM_007129.5(ZIC2):c.1490G>A (p.Gly497Glu)
NM_007129.5(ZIC2):c.1490G>C (p.Gly497Ala)
NM_007129.5(ZIC2):c.14C>T (p.Ala5Val) rs2152162144
NM_007129.5(ZIC2):c.1501_1524del (p.Gly501_Gly508del) rs973238177
NM_007129.5(ZIC2):c.1505_1516del (p.Ala502_Gly505del) rs777893609
NM_007129.5(ZIC2):c.1505_1516dup (p.Ala502_Gly505dup) rs777893609
NM_007129.5(ZIC2):c.1517G>A (p.Gly506Asp)
NM_007129.5(ZIC2):c.1519_1539del (p.Gly507_Gly513del)
NM_007129.5(ZIC2):c.1525A>G (p.Ser509Gly)
NM_007129.5(ZIC2):c.1535G>C (p.Gly512Ala)
NM_007129.5(ZIC2):c.1538G>A (p.Gly513Asp)
NM_007129.5(ZIC2):c.1541G>A (p.Ser514Asn)
NM_007129.5(ZIC2):c.1558C>G (p.His520Asp)
NM_007129.5(ZIC2):c.1563C>A (p.Ser521Arg) rs1279334299
NM_007129.5(ZIC2):c.1573T>A (p.Ser525Thr)
NM_007129.5(ZIC2):c.1599_*4dup (p.Ter533=)
NM_007129.5(ZIC2):c.167A>C (p.His56Pro)
NM_007129.5(ZIC2):c.176C>A (p.Ala59Asp)
NM_007129.5(ZIC2):c.1A>T (p.Met1Leu) rs2152162142
NM_007129.5(ZIC2):c.231C>G (p.Phe77Leu)
NM_007129.5(ZIC2):c.242_253dup (p.Ala84_Tyr85insCysProGlyAla)
NM_007129.5(ZIC2):c.260G>A (p.Gly87Asp) rs1230397352
NM_007129.5(ZIC2):c.273_284del (p.Ala94_Ala97del)
NM_007129.5(ZIC2):c.298C>T (p.Pro100Ser)
NM_007129.5(ZIC2):c.2T>C (p.Met1Thr)
NM_007129.5(ZIC2):c.363C>A (p.Phe121Leu)
NM_007129.5(ZIC2):c.41T>C (p.Val14Ala) rs2152162162
NM_007129.5(ZIC2):c.447_611dup (p.Pro204_Tyr205insHisSerAspAlaGlnGlyHisLeuLeuPheProGlyLeuProGluGlnHisGlyProHisGlySerGlnAsnValLeuAsnGlyGlnMetArgLeuGlyLeuProGlyGluValPheGlyArgSerGluGlnTyrArgGlnValAlaSerProArgThrAspPro)
NM_007129.5(ZIC2):c.450C>G (p.His150Gln) rs1284001088
NM_007129.5(ZIC2):c.463G>A (p.Gly155Ser)
NM_007129.5(ZIC2):c.472C>T (p.Leu158Phe)
NM_007129.5(ZIC2):c.506A>T (p.His169Leu)
NM_007129.5(ZIC2):c.507C>A (p.His169Gln) rs534770914
NM_007129.5(ZIC2):c.52G>C (p.Ala18Pro) rs2152162171
NM_007129.5(ZIC2):c.554G>A (p.Gly185Asp)
NM_007129.5(ZIC2):c.665_676del (p.Gly222_Met225del) rs980165353
NM_007129.5(ZIC2):c.673A>G (p.Met225Val) rs953472306
NM_007129.5(ZIC2):c.683C>G (p.Ala228Gly) rs2152162577
NM_007129.5(ZIC2):c.692ACC[11] (p.His238_His239dup) rs398124241
NM_007129.5(ZIC2):c.692ACC[12] (p.His237_His239dup) rs398124241
NM_007129.5(ZIC2):c.692ACC[5] (p.His236_His239del) rs398124241
NM_007129.5(ZIC2):c.692ACC[6] (p.His237_His239del) rs398124241
NM_007129.5(ZIC2):c.692ACC[7] (p.His238_His239del)
NM_007129.5(ZIC2):c.707A>G (p.His236Arg)
NM_007129.5(ZIC2):c.716A>C (p.His239Pro) rs2053242975
NM_007129.5(ZIC2):c.718_720del (p.Pro240del) rs957547266
NM_007129.5(ZIC2):c.739A>G (p.Met247Val) rs2053243222
NM_007129.5(ZIC2):c.754A>G (p.Ile252Val)
NM_007129.5(ZIC2):c.77C>G (p.Ala26Gly)
NM_007129.5(ZIC2):c.78GGC[2] (p.Ala31_Ala33del) rs748109787
NM_007129.5(ZIC2):c.78GGC[6] (p.Ala33_Glu34insAla)
NM_007129.5(ZIC2):c.797T>C (p.Leu266Pro)
NM_007129.5(ZIC2):c.800G>A (p.Ser267Asn)
NM_007129.5(ZIC2):c.809A>G (p.Lys270Arg)
NM_007129.5(ZIC2):c.810G>C (p.Lys270Asn)
NM_007129.5(ZIC2):c.824A>G (p.Lys275Arg)
NM_007129.5(ZIC2):c.825A>T (p.Lys275Asn) rs751270785
NM_007129.5(ZIC2):c.841C>T (p.His281Tyr)
NM_007129.5(ZIC2):c.853A>T (p.Thr285Ser)
NM_007129.5(ZIC2):c.856C>T (p.His286Tyr) rs2152162715
NM_007129.5(ZIC2):c.858C>G (p.His286Gln) rs1325393230
NM_007129.5(ZIC2):c.937C>T (p.Pro313Ser)
NM_007129.5(ZIC2):c.953A>G (p.Tyr318Cys)
NM_007129.5(ZIC2):c.95CCG[4] (p.Ala33_Glu34insAlaAla)
NM_007129.5(ZIC2):c.960_961delinsCA (p.Val321Ile) rs2152162752
NM_007129.5(ZIC2):c.983C>A (p.Thr328Lys) rs2053244542
NM_007129.5(ZIC2):c.983C>T (p.Thr328Ile) rs2053244542

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.