ClinVar Miner

List of variants in gene ZIC2 reported as likely benign for alobar holoprosencephaly

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_007129.5(ZIC2):c.1494C>A (p.Gly498=) rs949949328 0.00057
NM_007129.5(ZIC2):c.879C>T (p.Gly293=) rs138007077 0.00033
NM_007129.5(ZIC2):c.642C>T (p.Tyr214=) rs202231540 0.00022
NM_007129.5(ZIC2):c.1221G>A (p.Ser407=) rs369127058 0.00015
NM_007129.5(ZIC2):c.459G>T (p.Ala153=) rs771629736 0.00014
NM_007129.5(ZIC2):c.1587A>G (p.Glu529=) rs755906674 0.00012
NM_007129.5(ZIC2):c.297G>A (p.Gly99=) rs912113781 0.00010
NM_007129.5(ZIC2):c.552C>T (p.Pro184=) rs554801676 0.00009
NM_007129.5(ZIC2):c.348C>A (p.Thr116=) rs1264657841 0.00006
NM_007129.5(ZIC2):c.885G>A (p.Pro295=) rs779344309 0.00004
NM_007129.5(ZIC2):c.1347C>T (p.Ser449=) rs1023574991 0.00003
NM_007129.5(ZIC2):c.855A>G (p.Thr285=) rs780880109 0.00003
NM_007129.5(ZIC2):c.282G>C (p.Ala94=) rs886038582 0.00002
NM_007129.5(ZIC2):c.420G>A (p.Gly140=) rs747747563 0.00002
NM_007129.5(ZIC2):c.1146G>A (p.Lys382=) rs760314965 0.00001
NM_007129.5(ZIC2):c.1167C>G (p.Ser389=) rs1183417795 0.00001
NM_007129.5(ZIC2):c.1290C>T (p.Ser430=) rs780916615 0.00001
NM_007129.5(ZIC2):c.1506G>T (p.Ala502=) rs773682579 0.00001
NM_007129.5(ZIC2):c.261C>T (p.Gly87=) rs1024248405 0.00001
NM_007129.5(ZIC2):c.522G>T (p.Val174=) rs1482587836 0.00001
NM_007129.5(ZIC2):c.627A>G (p.Gln209=) rs766439036 0.00001
NM_007129.5(ZIC2):c.876C>G (p.Val292=) rs1207711011 0.00001
NM_007129.5(ZIC2):c.102G>A (p.Glu34=)
NM_007129.5(ZIC2):c.1068C>G (p.Thr356=)
NM_007129.5(ZIC2):c.1075+15G>A
NM_007129.5(ZIC2):c.1075+18C>T rs1007874796
NM_007129.5(ZIC2):c.1076-18G>A
NM_007129.5(ZIC2):c.1076-18G>T
NM_007129.5(ZIC2):c.1076-8G>A
NM_007129.5(ZIC2):c.1086G>C (p.Pro362=) rs996264199
NM_007129.5(ZIC2):c.1104G>A (p.Glu368=)
NM_007129.5(ZIC2):c.1119C>T (p.Arg373=)
NM_007129.5(ZIC2):c.1122C>T (p.Phe374=)
NM_007129.5(ZIC2):c.1164C>A (p.Thr388=)
NM_007129.5(ZIC2):c.1204_1214del (p.Tyr402fs)
NM_007129.5(ZIC2):c.1227G>A (p.Arg409=) rs2053257052
NM_007129.5(ZIC2):c.1239+11G>C
NM_007129.5(ZIC2):c.1239+7C>T
NM_007129.5(ZIC2):c.1239+9G>A
NM_007129.5(ZIC2):c.1239+9G>T
NM_007129.5(ZIC2):c.1240-11T>C
NM_007129.5(ZIC2):c.1251C>T (p.Ser417=)
NM_007129.5(ZIC2):c.1257G>T (p.Pro419=)
NM_007129.5(ZIC2):c.1281C>T (p.Ala427=)
NM_007129.5(ZIC2):c.1302G>A (p.Ser434=) rs376758883
NM_007129.5(ZIC2):c.1308G>A (p.Thr436=)
NM_007129.5(ZIC2):c.1320G>T (p.Leu440=)
NM_007129.5(ZIC2):c.1335C>G (p.Ala445=)
NM_007129.5(ZIC2):c.1419G>A (p.Ala473=)
NM_007129.5(ZIC2):c.1437C>G (p.Gly479=)
NM_007129.5(ZIC2):c.1449C>T (p.Gly483=)
NM_007129.5(ZIC2):c.1497C>A (p.Gly499=) rs186543347
NM_007129.5(ZIC2):c.1497C>T (p.Gly499=) rs186543347
NM_007129.5(ZIC2):c.1521C>T (p.Gly507=)
NM_007129.5(ZIC2):c.1536G>A (p.Gly512=)
NM_007129.5(ZIC2):c.1536G>C (p.Gly512=) rs557916722
NM_007129.5(ZIC2):c.1572C>A (p.Ser524=)
NM_007129.5(ZIC2):c.192G>C (p.Pro64=)
NM_007129.5(ZIC2):c.195C>T (p.Gly65=)
NM_007129.5(ZIC2):c.210C>G (p.Ser70=)
NM_007129.5(ZIC2):c.27C>T (p.Phe9=)
NM_007129.5(ZIC2):c.282G>T (p.Ala94=)
NM_007129.5(ZIC2):c.300C>T (p.Pro100=)
NM_007129.5(ZIC2):c.330G>A (p.Gly110=)
NM_007129.5(ZIC2):c.358C>T (p.Leu120=)
NM_007129.5(ZIC2):c.393G>T (p.Pro131=)
NM_007129.5(ZIC2):c.399C>T (p.Gly133=)
NM_007129.5(ZIC2):c.412C>T (p.Leu138=)
NM_007129.5(ZIC2):c.441C>T (p.His147=)
NM_007129.5(ZIC2):c.450C>T (p.His150=)
NM_007129.5(ZIC2):c.465C>A (p.Gly155=)
NM_007129.5(ZIC2):c.480G>C (p.Pro160=)
NM_007129.5(ZIC2):c.489A>G (p.Pro163=)
NM_007129.5(ZIC2):c.497A>G (p.His166Arg)
NM_007129.5(ZIC2):c.507C>T (p.His169=)
NM_007129.5(ZIC2):c.525C>T (p.Leu175=)
NM_007129.5(ZIC2):c.543C>G (p.Leu181=)
NM_007129.5(ZIC2):c.54G>T (p.Ala18=)
NM_007129.5(ZIC2):c.552C>G (p.Pro184=) rs554801676
NM_007129.5(ZIC2):c.57C>T (p.Arg19=)
NM_007129.5(ZIC2):c.601C>A (p.Arg201=)
NM_007129.5(ZIC2):c.615C>T (p.Tyr205=)
NM_007129.5(ZIC2):c.660C>T (p.Asn220=)
NM_007129.5(ZIC2):c.687G>A (p.Ala229=) rs1404616638
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_007129.5(ZIC2):c.6C>T (p.Leu2=)
NM_007129.5(ZIC2):c.744G>A (p.Arg248=) rs773487576
NM_007129.5(ZIC2):c.762G>A (p.Gln254=)
NM_007129.5(ZIC2):c.771C>T (p.Ile257=)
NM_007129.5(ZIC2):c.795A>G (p.Gln265=)
NM_007129.5(ZIC2):c.804T>C (p.Asn268=)
NM_007129.5(ZIC2):c.810G>A (p.Lys270=)
NM_007129.5(ZIC2):c.813G>A (p.Lys271=)
NM_007129.5(ZIC2):c.816C>T (p.Ser272=)
NM_007129.5(ZIC2):c.957A>G (p.Lys319=) rs1448074291
NM_007129.5(ZIC2):c.972C>T (p.Ile324=)

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