ClinVar Miner

List of variants studied for Holoprosencephaly 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 293
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HGVS dbSNP gnomAD frequency
NM_007129.5(ZIC2):c.1059C>T (p.His353=) rs1831992 0.07872
NM_007129.5(ZIC2):c.1326C>T (p.Ser442=) rs182192729 0.02065
NM_007129.5(ZIC2):c.1239+18G>A rs139312964 0.02063
NM_007129.5(ZIC2):c.528C>T (p.Asn176=) rs143055297 0.00772
NM_007129.5(ZIC2):c.213G>A (p.Pro71=) rs189469383 0.00325
NM_007129.5(ZIC2):c.1554G>A (p.Gly518=) rs199669243 0.00264
NM_007129.5(ZIC2):c.546G>T (p.Gly182=) rs200407312 0.00254
NM_007129.5(ZIC2):c.1398G>T (p.Ala466=) rs748825084 0.00094
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.1240-10T>G rs567951541 0.00025
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.1454C>T (p.Ala485Val) rs1355270815 0.00014
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.1374G>A (p.Ala458=) rs757103144 0.00006
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.1361C>T (p.Ser454Phe) rs969318004 0.00003
NM_007129.5(ZIC2):c.553G>A (p.Gly185Ser) rs543003846 0.00003
NM_007129.5(ZIC2):c.855A>G (p.Thr285=) rs780880109 0.00003
NM_007129.5(ZIC2):c.157G>C (p.Ala53Pro) rs867965997 0.00002
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.80C>T (p.Ala27Val) rs781249527 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.1314G>A (p.Pro438=) rs762579383 0.00001
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.1506G>T (p.Ala502=) rs773682579 0.00001
NM_007129.5(ZIC2):c.261C>T (p.Gly87=) rs1024248405 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.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.914A>T (p.Glu305Val) rs897501049 0.00001
1 bp del G 7
GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1
NC_000013.10:g.(?_100038233)_(103718599_?)dup
NC_000013.10:g.(?_92002837)_(103343314_?)del
NC_000013.10:g.(?_99336978)_(102379160_?)del
NC_000013.11:g.(?_99385979)_(99986648_?)del
NM_007129.3:c.1148_1464del
NM_007129.4(ZIC2):c.177_178ins56
NM_007129.5(ZIC2):c.1004del (p.Cys335fs)
NM_007129.5(ZIC2):c.1012C>T (p.Pro338Ser)
NM_007129.5(ZIC2):c.1019G>C (p.Cys340Ser) rs2053244781
NM_007129.5(ZIC2):c.102G>A (p.Glu34=)
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.1042_1048del (p.Glu348fs) rs397515365
NM_007129.5(ZIC2):c.1058_1059delinsCT (p.His353Pro) rs2053244892
NM_007129.5(ZIC2):c.1068C>G (p.Thr356=)
NM_007129.5(ZIC2):c.1073C>A (p.Thr358Lys) rs2152162790
NM_007129.5(ZIC2):c.1074A>G (p.Thr358=)
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.1076-2A>T rs1555332361
NM_007129.5(ZIC2):c.1076-8G>A
NM_007129.5(ZIC2):c.1085_1131del (p.Pro362fs) rs1555332362
NM_007129.5(ZIC2):c.1086G>C (p.Pro362=) rs996264199
NM_007129.5(ZIC2):c.1091_1092del (p.Gln364fs) rs397515500
NM_007129.5(ZIC2):c.1095_1096del (p.Cys365_Glu366delinsTer) rs1060499562
NM_007129.5(ZIC2):c.1096G>A (p.Glu366Lys) rs2053256269
NM_007129.5(ZIC2):c.1097_1098del (p.Glu366fs) rs1060499564
NM_007129.5(ZIC2):c.109G>A (p.Asp37Asn)
NM_007129.5(ZIC2):c.1103A>T (p.Glu368Val)
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.112C>G (p.Arg38Gly)
NM_007129.5(ZIC2):c.1151T>C (p.Met384Thr)
NM_007129.5(ZIC2):c.1156del (p.Val386fs) rs2152163567
NM_007129.5(ZIC2):c.1164C>A (p.Thr388=)
NM_007129.5(ZIC2):c.1199_1207del (p.Lys400_Tyr402del)
NM_007129.5(ZIC2):c.1200_1205del (p.Lys400_Tyr402delinsAsn) rs2053256914
NM_007129.5(ZIC2):c.1213_1216delinsGCATGT (p.Pro405fs)
NM_007129.5(ZIC2):c.1215del (p.Ser406fs) rs1594291863
NM_007129.5(ZIC2):c.1227G>A (p.Arg409=) rs2053257052
NM_007129.5(ZIC2):c.1229_1234del (p.Lys410_His411del) rs1566405714
NM_007129.5(ZIC2):c.1239+11G>C
NM_007129.5(ZIC2):c.1239+6A>G
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.1243del (p.His415fs) rs2152163697
NM_007129.5(ZIC2):c.1245T>G (p.His415Gln) rs794729641
NM_007129.5(ZIC2):c.1251C>T (p.Ser417=)
NM_007129.5(ZIC2):c.1255C>A (p.Pro419Thr)
NM_007129.5(ZIC2):c.1256C>T (p.Pro419Leu)
NM_007129.5(ZIC2):c.1257G>T (p.Pro419=)
NM_007129.5(ZIC2):c.1257_1258delinsAA (p.Gln420Lys) rs2152163712
NM_007129.5(ZIC2):c.1281C>G (p.Ala427=)
NM_007129.5(ZIC2):c.1281C>T (p.Ala427=)
NM_007129.5(ZIC2):c.1282G>T (p.Ala428Ser)
NM_007129.5(ZIC2):c.1302G>A (p.Ser434=) rs376758883
NM_007129.5(ZIC2):c.1307C>T (p.Thr436Met) rs2152163743
NM_007129.5(ZIC2):c.1308G>A (p.Thr436=)
NM_007129.5(ZIC2):c.1310C>T (p.Pro437Leu)
NM_007129.5(ZIC2):c.1316G>A (p.Gly439Glu)
NM_007129.5(ZIC2):c.1317del (p.Leu440fs) rs1594292057
NM_007129.5(ZIC2):c.1318dup (p.Leu440fs) rs397515364
NM_007129.5(ZIC2):c.1320G>T (p.Leu440=)
NM_007129.5(ZIC2):c.1330A>G (p.Ser444Gly) rs1402415693
NM_007129.5(ZIC2):c.1332C>A (p.Ser444Arg)
NM_007129.5(ZIC2):c.1335C>G (p.Ala445=)
NM_007129.5(ZIC2):c.1365AGCGGCGGCGGC[1] (p.Ala467_Ala470del) rs755522720
NM_007129.5(ZIC2):c.1365AGCGGCGGCGGC[3] (p.Ala470_Val471insAlaAlaAlaAla)
NM_007129.5(ZIC2):c.1365_1379del (p.Ala466_Ala470del)
NM_007129.5(ZIC2):c.1366GCN[45] (p.Ala456[15])
NM_007129.5(ZIC2):c.1368GGC[4] (p.Ala470_Val471insAla)
NM_007129.5(ZIC2):c.1373C>T (p.Ala458Val)
NM_007129.5(ZIC2):c.1377A>T (p.Ala459=)
NM_007129.5(ZIC2):c.1377_1382dup (p.Ala469_Ala470dup) rs768673486
NM_007129.5(ZIC2):c.1377_1391del (p.Ala466_Ala470del) rs752851904
NM_007129.5(ZIC2):c.1377_1391dup (p.Ala470_Val471insAlaAlaAlaAlaAla)
NM_007129.5(ZIC2):c.1377_1406del (p.Ala461_Ala470del) rs756225250
NM_007129.5(ZIC2):c.1377_1406dup (p.Ala461_Ala470dup) rs756225250
NM_007129.5(ZIC2):c.1380G>A (p.Ala460=)
NM_007129.5(ZIC2):c.1380GGC[1] (p.Ala468_Ala470del)
NM_007129.5(ZIC2):c.1380GGC[3] (p.Ala470del)
NM_007129.5(ZIC2):c.1380GGC[5] (p.Ala470dup) rs762700653
NM_007129.5(ZIC2):c.1382_1411del (p.Ala461_Ala470del) rs2152163821
NM_007129.5(ZIC2):c.1383G>A (p.Ala461=)
NM_007129.5(ZIC2):c.1383G>C (p.Ala461=)
NM_007129.5(ZIC2):c.1383_1406del (p.Ala463_Ala470del)
NM_007129.5(ZIC2):c.1386_1406del (p.Ala464_Ala470del) rs761822481
NM_007129.5(ZIC2):c.1386_1406dup (p.Ala464_Ala470dup) rs761822481
NM_007129.5(ZIC2):c.1388_1389insAGCGGCGGCGGCAGCGGCGGCGGCAGCGGCGGC (p.Ala470_Val471insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_007129.5(ZIC2):c.1389_1406del (p.Ala465_Ala470del)
NM_007129.5(ZIC2):c.1392T>A (p.Ala464=) rs921926048
NM_007129.5(ZIC2):c.1392T>C (p.Ala464=) rs921926048
NM_007129.5(ZIC2):c.1392T>G (p.Ala464=) rs921926048
NM_007129.5(ZIC2):c.1392_1397dup (p.Ala470_Val471insAlaAla)
NM_007129.5(ZIC2):c.1392_1400del (p.Ala468_Ala470del)
NM_007129.5(ZIC2):c.1392_1400dup (p.Ala468_Ala470dup) rs765889921
NM_007129.5(ZIC2):c.1392_1406del (p.Ala466_Ala470del) rs761822481
NM_007129.5(ZIC2):c.1392_1406dup (p.Ala470_Val471insAlaAlaAlaAlaAla)
NM_007129.5(ZIC2):c.1395GGC[5] (p.Ala470_Val471insAla)
NM_007129.5(ZIC2):c.1395GGC[6] (p.Ala469_Ala470dup) rs753250735
NM_007129.5(ZIC2):c.1397_1411del (p.Ala466_Ala470del) rs767890648
NM_007129.5(ZIC2):c.1399_1413del (p.Ala467_Val471del) rs756597502
NM_007129.5(ZIC2):c.1406_1411del (p.Ala469_Ala470del)
NM_007129.5(ZIC2):c.1406_1411dup (p.Ala470_Val471insAlaAla)
NM_007129.5(ZIC2):c.1407_1409dup (p.Ala470_Val471insAla)
NM_007129.5(ZIC2):c.1415_1423dup (p.Val474_His475insProAlaVal)
NM_007129.5(ZIC2):c.1419G>A (p.Ala473=)
NM_007129.5(ZIC2):c.1432G>A (p.Gly478Arg)
NM_007129.5(ZIC2):c.1437C>G (p.Gly479=)
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.1449C>T (p.Gly483=)
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.1497C>A (p.Gly499=) rs186543347
NM_007129.5(ZIC2):c.1497C>T (p.Gly499=) rs186543347
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.1521C>T (p.Gly507=)
NM_007129.5(ZIC2):c.1525A>G (p.Ser509Gly)
NM_007129.5(ZIC2):c.1535G>C (p.Gly512Ala)
NM_007129.5(ZIC2):c.1536G>A (p.Gly512=)
NM_007129.5(ZIC2):c.1536G>C (p.Gly512=) rs557916722
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.1572C>A (p.Ser524=)
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.192G>C (p.Pro64=)
NM_007129.5(ZIC2):c.195C>T (p.Gly65=)
NM_007129.5(ZIC2):c.1A>T (p.Met1Leu) rs2152162142
NM_007129.5(ZIC2):c.210C>G (p.Ser70=)
NM_007129.5(ZIC2):c.230_236delinsCA (p.Phe77fs) rs2053238266
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.27C>T (p.Phe9=)
NM_007129.5(ZIC2):c.282G>T (p.Ala94=)
NM_007129.5(ZIC2):c.298C>T (p.Pro100Ser)
NM_007129.5(ZIC2):c.2T>C (p.Met1Thr)
NM_007129.5(ZIC2):c.300C>T (p.Pro100=)
NM_007129.5(ZIC2):c.321del (p.Tyr108fs) rs1555332212
NM_007129.5(ZIC2):c.330G>A (p.Gly110=)
NM_007129.5(ZIC2):c.358C>T (p.Leu120=)
NM_007129.5(ZIC2):c.363C>A (p.Phe121Leu)
NM_007129.5(ZIC2):c.381_382del (p.Asp128fs) rs1456001894
NM_007129.5(ZIC2):c.393G>T (p.Pro131=)
NM_007129.5(ZIC2):c.397_403del (p.Gly133fs) rs1594290658
NM_007129.5(ZIC2):c.399C>T (p.Gly133=)
NM_007129.5(ZIC2):c.412C>T (p.Leu138=)
NM_007129.5(ZIC2):c.41T>C (p.Val14Ala) rs2152162162
NM_007129.5(ZIC2):c.441C>T (p.His147=)
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.450C>T (p.His150=)
NM_007129.5(ZIC2):c.463G>A (p.Gly155Ser)
NM_007129.5(ZIC2):c.465C>A (p.Gly155=)
NM_007129.5(ZIC2):c.472C>T (p.Leu158Phe)
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.506A>T (p.His169Leu)
NM_007129.5(ZIC2):c.507C>A (p.His169Gln) rs534770914
NM_007129.5(ZIC2):c.507C>T (p.His169=)
NM_007129.5(ZIC2):c.525C>T (p.Leu175=)
NM_007129.5(ZIC2):c.52G>C (p.Ala18Pro) rs2152162171
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.554G>A (p.Gly185Asp)
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.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.687G>A (p.Ala229=) rs1404616638
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
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.692ACC[8] (p.His239del) rs398124241
NM_007129.5(ZIC2):c.6C>T (p.Leu2=)
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.722del (p.Gly241fs)
NM_007129.5(ZIC2):c.739A>G (p.Met247Val) rs2053243222
NM_007129.5(ZIC2):c.744G>A (p.Arg248=) rs773487576
NM_007129.5(ZIC2):c.754A>G (p.Ile252Val)
NM_007129.5(ZIC2):c.762G>A (p.Gln254=)
NM_007129.5(ZIC2):c.771C>T (p.Ile257=)
NM_007129.5(ZIC2):c.773G>A (p.Cys258Tyr)
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.793C>T (p.Gln265Ter) rs1060499563
NM_007129.5(ZIC2):c.795A>G (p.Gln265=)
NM_007129.5(ZIC2):c.797T>C (p.Leu266Pro)
NM_007129.5(ZIC2):c.800G>A (p.Ser267Asn)
NM_007129.5(ZIC2):c.804T>C (p.Asn268=)
NM_007129.5(ZIC2):c.809A>G (p.Lys270Arg)
NM_007129.5(ZIC2):c.810G>A (p.Lys270=)
NM_007129.5(ZIC2):c.810G>C (p.Lys270Asn)
NM_007129.5(ZIC2):c.813G>A (p.Lys271=)
NM_007129.5(ZIC2):c.816C>T (p.Ser272=)
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.857_858del (p.His286fs) rs2152162709
NM_007129.5(ZIC2):c.858C>G (p.His286Gln) rs1325393230
NM_007129.5(ZIC2):c.911G>A (p.Trp304Ter)
NM_007129.5(ZIC2):c.936del (p.Lys312fs) rs397515499
NM_007129.5(ZIC2):c.937C>T (p.Pro313Ser)
NM_007129.5(ZIC2):c.953A>G (p.Tyr318Cys)
NM_007129.5(ZIC2):c.957A>G (p.Lys319=) rs1448074291
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.972C>T (p.Ile324=)
NM_007129.5(ZIC2):c.973C>T (p.Arg325Cys) rs2152162756
NM_007129.5(ZIC2):c.983C>A (p.Thr328Lys) rs2053244542
NM_007129.5(ZIC2):c.983C>T (p.Thr328Ile) rs2053244542

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