ClinVar Miner

List of variants studied for alobar holoprosencephaly

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 231
Download table as spreadsheet
HGVS dbSNP
1 bp del G 7
GLI2, 1-BP DEL, NT2274
NC_000013.11:g.(?_99385979)_(99986648_?)del
NM_001374353.1(GLI2):c.*1029C>T rs182760827
NM_001374353.1(GLI2):c.*118C>T rs190824141
NM_001374353.1(GLI2):c.*1332T>C rs150397467
NM_001374353.1(GLI2):c.*1375A>C rs200730065
NM_001374353.1(GLI2):c.*1628G>T rs886054827
NM_001374353.1(GLI2):c.*1660T>A
NM_001374353.1(GLI2):c.*1735T>C
NM_001374353.1(GLI2):c.*1753C>T
NM_001374353.1(GLI2):c.*1785A>G rs150539352
NM_001374353.1(GLI2):c.*1819T>C rs754885960
NM_001374353.1(GLI2):c.*1826T>G rs139459477
NM_001374353.1(GLI2):c.*1888T>G rs747928542
NM_001374353.1(GLI2):c.*1895G>A rs76865566
NM_001374353.1(GLI2):c.*1947G>A
NM_001374353.1(GLI2):c.*285G>A
NM_001374353.1(GLI2):c.*31G>A rs377195281
NM_001374353.1(GLI2):c.*378A>G rs886054820
NM_001374353.1(GLI2):c.*411C>T
NM_001374353.1(GLI2):c.*419C>T rs370777016
NM_001374353.1(GLI2):c.*42C>T rs185228238
NM_001374353.1(GLI2):c.*569T>A rs75544832
NM_001374353.1(GLI2):c.*712G>C
NM_001374353.1(GLI2):c.*795T>C
NM_001374353.1(GLI2):c.*816G>C rs2278741
NM_001374353.1(GLI2):c.*963A>T rs191669588
NM_001374353.1(GLI2):c.-1G>C rs369138377
NM_001374353.1(GLI2):c.-7G>A rs112131051
NM_001374353.1(GLI2):c.1080G>A (p.Ser360=) rs149110951
NM_001374353.1(GLI2):c.1095C>T (p.Thr365=) rs374705620
NM_001374353.1(GLI2):c.1106T>C (p.Val369Ala)
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785
NM_001374353.1(GLI2):c.1121G>A (p.Arg374His) rs370220133
NM_001374353.1(GLI2):c.1173G>A (p.Ala391=) rs144819008
NM_001374353.1(GLI2):c.1178C>T (p.Thr393Met) rs571690193
NM_001374353.1(GLI2):c.1195G>A (p.Asp399Asn)
NM_001374353.1(GLI2):c.1243G>A (p.Val415Met) rs142296407
NM_001374353.1(GLI2):c.1260C>T (p.Thr420=) rs200497671
NM_001374353.1(GLI2):c.1272G>A (p.Trp424Ter) rs121917707
NM_001374353.1(GLI2):c.129A>C (p.Ala43=) rs201041526
NM_001374353.1(GLI2):c.1309C>G (p.Leu437Val)
NM_001374353.1(GLI2):c.1317+6C>G rs200971419
NM_001374353.1(GLI2):c.131C>T (p.Ala44Val)
NM_001374353.1(GLI2):c.132G>A (p.Ala44=) rs145778937
NM_001374353.1(GLI2):c.1383G>A (p.Thr461=) rs768606373
NM_001374353.1(GLI2):c.1384C>G (p.Arg462Gly) rs121917708
NM_001374353.1(GLI2):c.148+14C>T rs190309269
NM_001374353.1(GLI2):c.148+15G>A rs182618064
NM_001374353.1(GLI2):c.148+5T>C rs201273354
NM_001374353.1(GLI2):c.149-14C>G
NM_001374353.1(GLI2):c.1490A>C (p.Tyr497Ser) rs1553477146
NM_001374353.1(GLI2):c.152C>G (p.Pro51Arg)
NM_001374353.1(GLI2):c.1533C>T (p.Thr511=) rs137960978
NM_001374353.1(GLI2):c.1633-7T>A rs532360271
NM_001374353.1(GLI2):c.1662C>T (p.Cys554=) rs143055766
NM_001374353.1(GLI2):c.1672T>C (p.Tyr558His)
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) rs61732852
NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser) rs61732851
NM_001374353.1(GLI2):c.1755C>T (p.Asp585=) rs139202322
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128
NM_001374353.1(GLI2):c.1818C>A (p.Gly606=) rs61732850
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys) rs387907277
NM_001374353.1(GLI2):c.1890G>A (p.Lys630=) rs565184396
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=) rs13008360
NM_001374353.1(GLI2):c.1905+1G>A rs1558937172
NM_001374353.1(GLI2):c.1905+7G>A rs372198430
NM_001374353.1(GLI2):c.1917C>T (p.Ser639=) rs377642084
NM_001374353.1(GLI2):c.1924G>A (p.Gly642Arg)
NM_001374353.1(GLI2):c.192dup (p.Asp65Ter) rs1388607733
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687
NM_001374353.1(GLI2):c.1947C>T (p.Ser649=)
NM_001374353.1(GLI2):c.2007G>A (p.Thr669=) rs138592005
NM_001374353.1(GLI2):c.2034G>A (p.Thr678=) rs139298853
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306
NM_001374353.1(GLI2):c.2062G>A (p.Asp688Asn) rs751513015
NM_001374353.1(GLI2):c.2107C>T (p.Arg703Cys) rs773976966
NM_001374353.1(GLI2):c.2131C>T (p.Arg711Trp)
NM_001374353.1(GLI2):c.2136C>A (p.Phe712Leu) rs151179617
NM_001374353.1(GLI2):c.2199T>G (p.Thr733=) rs146909860
NM_001374353.1(GLI2):c.2209C>A (p.Arg737=) rs138932004
NM_001374353.1(GLI2):c.220C>T (p.His74Tyr) rs201945889
NM_001374353.1(GLI2):c.2211G>T (p.Arg737=) rs142856393
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=) rs200831069
NM_001374353.1(GLI2):c.2261T>G (p.Phe754Cys)
NM_001374353.1(GLI2):c.2267G>A (p.Gly756Asp) rs886054812
NM_001374353.1(GLI2):c.2395G>T (p.Ala799Ser) rs767780220
NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu) rs556743028
NM_001374353.1(GLI2):c.244G>A (p.Gly82Ser) rs531807595
NM_001374353.1(GLI2):c.2486C>T (p.Pro829Leu) rs761090665
NM_001374353.1(GLI2):c.2503G>A (p.Ala835Thr) rs751028726
NM_001374353.1(GLI2):c.252C>T (p.His84=) rs201412339
NM_001374353.1(GLI2):c.2598G>A (p.Pro866=) rs772224406
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) rs572826436
NM_001374353.1(GLI2):c.2666C>T (p.Pro889Leu)
NM_001374353.1(GLI2):c.2683A>G (p.Ser895Gly)
NM_001374353.1(GLI2):c.2689C>T (p.Arg897Trp)
NM_001374353.1(GLI2):c.2690G>A (p.Arg897Gln) rs886054813
NM_001374353.1(GLI2):c.270C>T (p.Ser90=)
NM_001374353.1(GLI2):c.2865T>A (p.Pro955=) rs747247646
NM_001374353.1(GLI2):c.2873G>T (p.Arg958Leu)
NM_001374353.1(GLI2):c.2886G>A (p.Leu962=) rs777165274
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=) rs146811565
NM_001374353.1(GLI2):c.291C>T (p.Asp97=) rs199671413
NM_001374353.1(GLI2):c.2955C>G (p.Ala985=) rs886054814
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=) rs373880077
NM_001374353.1(GLI2):c.2987C>G (p.Pro996Arg) rs780303555
NM_001374353.1(GLI2):c.2997C>T (p.Asp999=) rs140479803
NM_001374353.1(GLI2):c.3123C>T (p.Asp1041=)
NM_001374353.1(GLI2):c.315G>A (p.Pro105=) rs139473153
NM_001374353.1(GLI2):c.3186C>T (p.Asp1062=) rs769533860
NM_001374353.1(GLI2):c.31G>A (p.Glu11Lys) rs574656730
NM_001374353.1(GLI2):c.3210dup (p.Thr1071fs) rs1057518689
NM_001374353.1(GLI2):c.321G>A (p.Pro107=) rs578011257
NM_001374353.1(GLI2):c.3228C>T (p.Phe1076=) rs886054815
NM_001374353.1(GLI2):c.322del (p.Ala108fs) rs1553471273
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961
NM_001374353.1(GLI2):c.3371A>T (p.Asn1124Ile)
NM_001374353.1(GLI2):c.3409G>A (p.Val1137Ile) rs200999705
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser) rs3738880
NM_001374353.1(GLI2):c.3416C>T (p.Ala1139Val) rs886054816
NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=) rs141988240
NM_001374353.1(GLI2):c.3477G>T (p.Gln1159His) rs139686081
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319
NM_001374353.1(GLI2):c.3562C>T (p.Leu1188=) rs369264013
NM_001374353.1(GLI2):c.3572G>A (p.Arg1191His) rs200537256
NM_001374353.1(GLI2):c.3575G>T (p.Ser1192Ile) rs138909736
NM_001374353.1(GLI2):c.3596T>A (p.Ile1199Asn) rs886054817
NM_001374353.1(GLI2):c.3647A>G (p.Gln1216Arg) rs377503122
NM_001374353.1(GLI2):c.3831G>A (p.Thr1277=) rs115052795
NM_001374353.1(GLI2):c.3842G>A (p.Arg1281His) rs370407550
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) rs12711538
NM_001374353.1(GLI2):c.3886C>A (p.Pro1296Thr) rs767845340
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=) rs10167980
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238
NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=) rs149290823
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=) rs374113689
NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu) rs145939921
NM_001374353.1(GLI2):c.4064G>A (p.Arg1355Gln)
NM_001374353.1(GLI2):c.4094G>A (p.Arg1365His)
NM_001374353.1(GLI2):c.413C>T (p.Thr138Met)
NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys) rs143914758
NM_001374353.1(GLI2):c.4156A>G (p.Met1386Val) rs577126364
NM_001374353.1(GLI2):c.4170G>A (p.Pro1390=) rs200149538
NM_001374353.1(GLI2):c.4208C>G (p.Ala1403Gly) rs370136073
NM_001374353.1(GLI2):c.4226C>T (p.Ser1409Leu)
NM_001374353.1(GLI2):c.4242G>A (p.Pro1414=) rs771337922
NM_001374353.1(GLI2):c.4255G>A (p.Ala1419Thr) rs376388820
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786
NM_001374353.1(GLI2):c.4281_4282delinsAT (p.Met1427_Leu1428delinsIlePhe) rs1553479775
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe) rs146207623
NM_001374353.1(GLI2):c.4293C>T (p.Tyr1431=) rs374166743
NM_001374353.1(GLI2):c.4299G>T (p.Gln1433His)
NM_001374353.1(GLI2):c.4307T>C (p.Met1436Thr) rs886054818
NM_001374353.1(GLI2):c.4325G>A (p.Gly1442Asp)
NM_001374353.1(GLI2):c.4392C>G (p.Asp1464Glu)
NM_001374353.1(GLI2):c.4446T>C (p.Thr1482=) rs151090814
NM_001374353.1(GLI2):c.4468G>A (p.Ala1490Thr)
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747
NM_001374353.1(GLI2):c.4509T>G (p.Asp1503Glu) rs148902971
NM_001374353.1(GLI2):c.451G>C (p.Ala151Pro) rs781771721
NM_001374353.1(GLI2):c.4571C>A (p.Ser1524Tyr)
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His) rs138987487
NM_001374353.1(GLI2):c.4603A>T (p.Thr1535Ser) rs1057518657
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453
NM_001374353.1(GLI2):c.4678G>A (p.Glu1560Lys) rs770936696
NM_001374353.1(GLI2):c.546C>T (p.Leu182=) rs200028917
NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser) rs542892514
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066
NM_001374353.1(GLI2):c.661C>T (p.Pro221Ser) rs771675078
NM_001374353.1(GLI2):c.671C>T (p.Thr224Met)
NM_001374353.1(GLI2):c.672G>A (p.Thr224=) rs147049153
NM_001374353.1(GLI2):c.677G>A (p.Arg226His) rs766283583
NM_001374353.1(GLI2):c.686G>A (p.Arg229His)
NM_001374353.1(GLI2):c.713T>C (p.Leu238Pro) rs1558923316
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481
NM_001374353.1(GLI2):c.789_826del (p.Arg264fs)
NM_001374353.1(GLI2):c.78C>T (p.Pro26=) rs373668718
NM_001374353.1(GLI2):c.801G>A (p.Ser267=) rs2592595
NM_001374353.1(GLI2):c.803C>T (p.Ala268Val) rs146992756
NM_001374353.1(GLI2):c.845+10G>A rs199673018
NM_001374353.1(GLI2):c.864_865del (p.His289fs) rs398122882
NM_001374353.1(GLI2):c.88A>C (p.Lys30Gln) rs201053024
NM_001374353.1(GLI2):c.891del (p.Gln297fs) rs1057518696
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186
NM_005270.5(GLI2):c.2911G>A (p.Asp971Asn)
NM_005270.5(GLI2):c.3618del (p.Gln1206fs)
NM_005618.4(DLL1):c.2117C>T (p.Ser706Leu) rs760189276
NM_007129.3(ZIC2):c.1366_1368(15_45)
NM_007129.3:c.1148_1464del
NM_007129.4(ZIC2):c.177_178ins56
NM_007129.5(ZIC2):c.1019G>C (p.Cys340Ser)
NM_007129.5(ZIC2):c.1042_1048del (p.Glu348fs) rs397515365
NM_007129.5(ZIC2):c.1058_1059delinsCT (p.His353Pro)
NM_007129.5(ZIC2):c.1076-2A>T rs1555332361
NM_007129.5(ZIC2):c.1085_1131del (p.Pro362fs) rs1555332362
NM_007129.5(ZIC2):c.1091_1092del (p.Gln364fs) rs397515500
NM_007129.5(ZIC2):c.1093_1094TG[1] (p.Cys365_Glu366delinsTer) rs1060499562
NM_007129.5(ZIC2):c.1096G>A (p.Glu366Lys)
NM_007129.5(ZIC2):c.1097_1098del (p.Glu366fs) rs1060499564
NM_007129.5(ZIC2):c.1200_1205del (p.Lys400_Tyr402delinsAsn)
NM_007129.5(ZIC2):c.1215del (p.Ser406fs) rs1594291863
NM_007129.5(ZIC2):c.1229_1234del (p.Lys410_His411del) rs1566405714
NM_007129.5(ZIC2):c.1245T>G (p.His415Gln) rs794729641
NM_007129.5(ZIC2):c.1314G>A (p.Pro438=) rs762579383
NM_007129.5(ZIC2):c.1317del (p.Leu440fs) rs1594292057
NM_007129.5(ZIC2):c.1318dup (p.Leu440fs) rs397515364
NM_007129.5(ZIC2):c.1326C>T (p.Ser442=) rs182192729
NM_007129.5(ZIC2):c.1347C>T (p.Ser449=) rs1023574991
NM_007129.5(ZIC2):c.1377_1382dup (p.Ala469_Ala470dup)
NM_007129.5(ZIC2):c.1377_1406dup (p.Ala461_Ala470dup) rs756225250
NM_007129.5(ZIC2):c.1494C>A (p.Gly498=) rs949949328
NM_007129.5(ZIC2):c.1497C>T (p.Gly499=) rs186543347
NM_007129.5(ZIC2):c.1554G>A (p.Gly518=) rs199669243
NM_007129.5(ZIC2):c.213G>A (p.Pro71=) rs189469383
NM_007129.5(ZIC2):c.230_236delinsCA (p.Phe77fs)
NM_007129.5(ZIC2):c.321del (p.Tyr108fs) rs1555332212
NM_007129.5(ZIC2):c.381_382del (p.Asp128fs) rs1456001894
NM_007129.5(ZIC2):c.397_403del (p.Gly133fs) rs1594290658
NM_007129.5(ZIC2):c.528C>T (p.Asn176=) rs143055297
NM_007129.5(ZIC2):c.546G>T (p.Gly182=) rs200407312
NM_007129.5(ZIC2):c.691_692insCAC (p.His231_His232insPro) rs1594290893
NM_007129.5(ZIC2):c.692_694ACC[8] (p.His239del) rs398124241
NM_007129.5(ZIC2):c.793C>T (p.Gln265Ter) rs1060499563
NM_007129.5(ZIC2):c.855A>G (p.Thr285=) rs780880109
NM_007129.5(ZIC2):c.858C>G (p.His286Gln) rs1325393230
NM_007129.5(ZIC2):c.936del (p.Lys312fs) rs397515499
NM_007129.5(ZIC2):c.983C>T (p.Thr328Ile)
ZIC2, 2-BP DEL, 180AC

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