ClinVar Miner

List of variants reported as uncertain significance for Holoprosencephaly 5

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ClinVar version:
Total variants: 140
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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
NC_000013.10:g.(?_100038233)_(103718599_?)dup
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[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.1368GGC[4] (p.Ala470_Val471insAla)
NM_007129.5(ZIC2):c.1373C>T (p.Ala458Val)
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.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.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.1389_1406del (p.Ala465_Ala470del)
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.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

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