List of variants in gene ZIC2 reported as likely benign for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 97

Download table as spreadsheet

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.800G>A (p.Ser267Asn)
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=)

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.