ClinVar Miner

List of variants studied for Neural tube defect

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_138959.3(VANGL1):c.*505A>G rs6700610 0.67885
NM_001232.4(CASQ2):c.*632G>C rs1140238 0.65651
NM_001232.4(CASQ2):c.*482C>T rs7521023 0.63558
NM_020335.3(VANGL2):c.1137A>G (p.Lys379=) rs12086448 0.58424
NM_138959.3(VANGL1):c.*4478C>T rs17034226 0.41876
NM_138959.3(VANGL1):c.*2351T>G rs12121158 0.41872
NM_138959.3(VANGL1):c.*5751A>G rs10801933 0.41406
NM_138959.3(VANGL1):c.*5368G>A rs10494179 0.39762
NM_138959.3(VANGL1):c.*5995A>T rs4595366 0.39755
NM_138959.3(VANGL1):c.*5841A>T rs4548441 0.39752
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_138959.3(VANGL1):c.*3496T>A rs4839472 0.31126
NM_138959.3(VANGL1):c.*416G>A rs3811011 0.25321
NM_138959.3(VANGL1):c.*1277C>T rs3204955 0.25318
NM_138959.3(VANGL1):c.*1183del rs3841008 0.25316
NM_138959.3(VANGL1):c.*3023G>T rs10923204 0.24904
NM_138959.3(VANGL1):c.*6026G>A rs6428677 0.24227
NM_001232.4(CASQ2):c.*1123_*1124del rs56839330 0.23414
NM_138959.3(VANGL1):c.*6199A>T rs3811007 0.22923
NM_138959.3(VANGL1):c.*83T>A rs3811013 0.17099
NM_138959.3(VANGL1):c.*6212C>T rs3811006 0.16816
NM_138959.3(VANGL1):c.*4504C>T rs17034228 0.16812
NM_138959.3(VANGL1):c.*5266C>T rs17034230 0.16811
NM_138959.3(VANGL1):c.346G>A (p.Ala116Thr) rs4839469 0.12684
NM_138959.3(VANGL1):c.-224C>A rs191609592 0.10807
NM_001232.4(CASQ2):c.*138T>C rs28730710 0.10658
NM_138959.3(VANGL1):c.*6721A>G rs17034249 0.10611
NM_138959.3(VANGL1):c.*2581G>A rs3811008 0.10587
NM_138959.3(VANGL1):c.*3417C>T rs76160883 0.06248
NM_138959.3(VANGL1):c.*2489C>T rs41299571 0.06245
NM_138959.3(VANGL1):c.*6321T>G rs77318780 0.06169
NM_138959.3(VANGL1):c.*300C>T rs41310108 0.05806
NM_138959.3(VANGL1):c.*217C>T rs41299565 0.05793
NM_138959.3(VANGL1):c.*694C>A rs41312690 0.05722
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_138959.3(VANGL1):c.*2043C>T rs74117021 0.02749
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_138959.3(VANGL1):c.1040A>C (p.Glu347Ala) rs34059106 0.01695
NM_138959.3(VANGL1):c.*3544C>T rs74117023 0.01618
NM_138959.3(VANGL1):c.*3336G>A rs61732170 0.01470
NM_138959.3(VANGL1):c.-239G>A rs563855412 0.00806
NM_138959.3(VANGL1):c.*1652C>T rs146512242 0.00738
NM_138959.3(VANGL1):c.*1627A>G rs149888685 0.00606
NM_025129.5(FUZ):c.405C>T (p.Ile135=) rs35499921 0.00594
NM_138959.3(VANGL1):c.*5444C>G rs142497673 0.00486
NM_138959.3(VANGL1):c.*5267G>A rs75064936 0.00465
NM_138959.3(VANGL1):c.435T>C (p.Cys145=) rs34768472 0.00443
NM_138959.3(VANGL1):c.*3653C>T rs146435279 0.00442
NM_138959.3(VANGL1):c.*2865A>G rs114921471 0.00424
NM_138959.3(VANGL1):c.345C>T (p.Val115=) rs79828493 0.00413
NM_138959.3(VANGL1):c.*3608C>T rs555833838 0.00381
NM_138959.3(VANGL1):c.*2336A>G rs148944333 0.00362
NM_138959.3(VANGL1):c.*3742A>T rs115376031 0.00360
NM_138959.3(VANGL1):c.330C>T (p.Tyr110=) rs41275546 0.00358
NM_001232.4(CASQ2):c.*143G>A rs28730709 0.00217
NM_138959.3(VANGL1):c.*1043A>G rs150705915 0.00210
NM_138959.3(VANGL1):c.*1772A>G rs114033235 0.00199
NM_138959.3(VANGL1):c.*2695C>A rs540290490 0.00195
NM_138959.3(VANGL1):c.*922C>T rs142123586 0.00170
NM_138959.3(VANGL1):c.323A>G (p.Lys108Arg) rs141673853 0.00154
NM_138959.3(VANGL1):c.*383C>G rs75277108 0.00153
NM_138959.3(VANGL1):c.*758G>A rs546932643 0.00140
NM_138959.3(VANGL1):c.*5466G>A rs192325588 0.00135
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) rs142594314 0.00128
NM_138959.3(VANGL1):c.*2708G>A rs565246095 0.00084
NM_138959.3(VANGL1):c.274A>G (p.Ile92Val) rs143196463 0.00083
NM_138959.3(VANGL1):c.*5808C>T rs184708484 0.00082
NM_138959.3(VANGL1):c.*3671T>C rs757056873 0.00075
NM_138959.3(VANGL1):c.*6794C>A rs562835629 0.00068
NM_138959.3(VANGL1):c.1050T>C (p.His350=) rs147220426 0.00065
NM_138959.3(VANGL1):c.*2187T>C rs146730302 0.00061
NM_138959.3(VANGL1):c.285C>T (p.Ile95=) rs140451005 0.00060
NM_138959.3(VANGL1):c.*3407dup rs752251154 0.00056
NM_138959.3(VANGL1):c.*3409T>C rs140931431 0.00056
NM_138959.3(VANGL1):c.*2099G>T rs886045129 0.00054
NM_138959.3(VANGL1):c.-145G>T rs559438343 0.00052
NM_138959.3(VANGL1):c.73G>A (p.Glu25Lys) rs61734296 0.00048
NM_138959.3(VANGL1):c.*2460C>T rs886045132 0.00047
NM_138959.3(VANGL1):c.*47G>T rs190792695 0.00039
NM_138959.3(VANGL1):c.*3598A>G rs187286147 0.00036
NM_138959.3(VANGL1):c.*5862G>A rs868196412 0.00035
NM_138959.3(VANGL1):c.*801A>C rs768206672 0.00034
NM_138959.3(VANGL1):c.-115G>C rs181583261 0.00026
NM_138959.3(VANGL1):c.1172G>T (p.Arg391Met) rs140485834 0.00022
NM_138959.3(VANGL1):c.*25A>T rs577473121 0.00018
NM_138959.3(VANGL1):c.*5132G>T rs549041171 0.00018
NM_138959.3(VANGL1):c.765C>T (p.Val255=) rs368722418 0.00017
NM_138959.3(VANGL1):c.*2009C>T rs181543393 0.00016
NM_138959.3(VANGL1):c.*6681A>G rs968357183 0.00016
NM_138959.3(VANGL1):c.*6837A>G rs1056160668 0.00016
NM_138959.3(VANGL1):c.*4272T>G rs777221691 0.00015
NM_138959.3(VANGL1):c.*4347C>T rs138485279 0.00014
NM_138959.3(VANGL1):c.*5351G>A rs762453158 0.00014
NM_138959.3(VANGL1):c.231G>A (p.Thr77=) rs186509771 0.00014
NM_138959.3(VANGL1):c.868T>C (p.Tyr290His) rs145309218 0.00014
NM_138959.3(VANGL1):c.*1545A>G rs117337677 0.00012
NM_138959.3(VANGL1):c.*6128T>C rs181588954 0.00012
NM_138959.3(VANGL1):c.*6474T>G rs886045152 0.00012
NM_138959.3(VANGL1):c.*3049G>C rs1040113254 0.00011
NM_138959.3(VANGL1):c.*4846G>C rs868558700 0.00011
NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu) rs146695372 0.00010
NM_138959.3(VANGL1):c.*3290A>G rs1378359750 0.00009
NM_138959.3(VANGL1):c.1127A>G (p.Gln376Arg) rs200389969 0.00009
NM_138959.3(VANGL1):c.98C>T (p.Ser33Leu) rs78535164 0.00009
NM_001184785.2(PARD3):c.2572A>T (p.Thr858Ser) rs762921297 0.00008
NM_138959.3(VANGL1):c.*932dup rs886045124 0.00008
NM_138959.3(VANGL1):c.612C>T (p.Tyr204=) rs577862345 0.00008
NM_001184785.2(PARD3):c.1046G>A (p.Arg349His) rs199923448 0.00006
NM_001184785.2(PARD3):c.583-3T>C rs557643577 0.00006
NM_001366285.2(TBXT):c.676C>T (p.His226Tyr) rs774760380 0.00006
NM_138959.3(VANGL1):c.*2107A>G rs886045130 0.00006
NM_138959.3(VANGL1):c.*3844A>G rs528983735 0.00006
NM_138959.3(VANGL1):c.*4800C>A rs1027382711 0.00006
NM_138959.3(VANGL1):c.1299C>T (p.Asn433=) rs145137292 0.00006
NM_138959.3(VANGL1):c.542G>A (p.Arg181Gln) rs761123443 0.00006
NM_138959.3(VANGL1):c.812+9C>T rs370321176 0.00006
NM_025129.5(FUZ):c.446C>T (p.Thr149Ile) rs762455950 0.00005
NM_138959.3(VANGL1):c.*707C>T rs562969850 0.00005
NM_001286535.2(RAD9B):c.1199dup (p.Arg401fs) rs748778907 0.00004
NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln) rs146357218 0.00004
NM_138959.3(VANGL1):c.*1456T>C rs886045126 0.00004
NM_138959.3(VANGL1):c.*1638A>G rs756347879 0.00004
NM_138959.3(VANGL1):c.*1748C>T rs143344734 0.00004
NM_138959.3(VANGL1):c.51G>A (p.Ser17=) rs575493003 0.00004
NM_138959.3(VANGL1):c.681G>A (p.Val227=) rs201698322 0.00004
NM_001184785.2(PARD3):c.3736G>A (p.Gly1246Ser) rs757259023 0.00003
NM_001286535.2(RAD9B):c.28A>G (p.Ser10Gly) rs372056091 0.00003
NM_001387011.1(AMBRA1):c.1090C>T (p.Leu364Phe) rs768184871 0.00003
NM_138959.3(VANGL1):c.*5036G>A rs1432374941 0.00003
NM_138959.3(VANGL1):c.*5993C>G rs886045150 0.00003
NM_138959.3(VANGL1):c.*6360C>T rs886045151 0.00003
NM_138959.3(VANGL1):c.*6640G>A rs746958675 0.00003
NM_138959.3(VANGL1):c.1023C>T (p.Asn341=) rs543050989 0.00003
NM_138959.3(VANGL1):c.1045G>A (p.Glu349Lys) rs778860160 0.00003
NM_138959.3(VANGL1):c.518G>A (p.Arg173His) rs148341022 0.00003
NM_001387011.1(AMBRA1):c.2920A>G (p.Met974Val) rs761423550 0.00002
NM_138959.3(VANGL1):c.*2329C>T rs188964296 0.00002
NM_138959.3(VANGL1):c.*4463A>G rs886045142 0.00002
NM_138959.3(VANGL1):c.1529A>G (p.Lys510Arg) rs375459125 0.00002
NM_001387011.1(AMBRA1):c.239C>T (p.Thr80Met) rs1328894371 0.00001
NM_138959.3(VANGL1):c.*1970C>A rs746455152 0.00001
NM_138959.3(VANGL1):c.*2344A>C rs531884184 0.00001
NM_138959.3(VANGL1):c.*3123A>G rs143712039 0.00001
NM_138959.3(VANGL1):c.*3150T>C rs148126079 0.00001
NM_138959.3(VANGL1):c.*3289A>G rs886045136 0.00001
NM_138959.3(VANGL1):c.*340C>G rs886045121 0.00001
NM_138959.3(VANGL1):c.*3559G>A rs544552151 0.00001
NM_138959.3(VANGL1):c.*3708C>T rs1368816704 0.00001
NM_138959.3(VANGL1):c.*4254A>G rs961390698 0.00001
NM_138959.3(VANGL1):c.*5066C>G rs751663783 0.00001
NM_138959.3(VANGL1):c.*929G>A rs886045123 0.00001
NM_138959.3(VANGL1):c.114C>T (p.Asp38=) rs201840785 0.00001
NM_138959.3(VANGL1):c.1210G>T (p.Ala404Ser) rs775571796 0.00001
NM_138959.3(VANGL1):c.1491T>G (p.Ile497Met) rs200739468 0.00001
NM_138959.3(VANGL1):c.312G>C (p.Gly104=) rs146723580 0.00001
NM_138959.3(VANGL1):c.572T>C (p.Val191Ala) rs781010619 0.00001
NM_138959.3(VANGL1):c.619C>T (p.Arg207Cys) rs771534557 0.00001
NM_138959.3(VANGL1):c.759G>C (p.Gln253His) rs555914402 0.00001
NM_138959.3(VANGL1):c.914A>T (p.His305Leu) rs886045119 0.00001
NC_000010.10:g.34835589_34975192del139604
NC_000012.11:g.110950633C>G
NM_001184785.2(PARD3):c.2339A>G (p.Asp780Gly) rs1114167354
NM_001184785.2(PARD3):c.2729C>A (p.Pro910Gln) rs781461462
NM_001232.4(CASQ2):c.*1017del rs11347859
NM_001286535.2(RAD9B):c.1060A>G (p.Ser354Gly) rs747100389
NM_001286535.2(RAD9B):c.336A>G (p.Ile112Met) rs1593037878
NM_001286535.2(RAD9B):c.645T>A (p.Phe215Leu) rs1593083585
NM_001286535.2(RAD9B):c.661G>A (p.Gly221Arg) rs763079713
NM_001286535.2(RAD9B):c.960del (p.Ala321fs) rs778121031
NM_001387011.1(AMBRA1):c.2498C>T (p.Ser833Phe) rs1950539302
NM_001387011.1(AMBRA1):c.3128C>T (p.Ser1043Phe) rs776724460
NM_002211.4(ITGB1):c.2303dup (p.Glu769fs) rs1565818580
NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter) rs786204030
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) rs114727354
NM_020335.3(VANGL2):c.233C>T (p.Thr78Ile)
NM_020335.3(VANGL2):c.403C>T (p.Arg135Trp)
NM_020335.3(VANGL2):c.986C>T (p.Ala329Val)
NM_138959.3(VANGL1):c.*1042C>A rs886045125
NM_138959.3(VANGL1):c.*1402C>G rs1653892014
NM_138959.3(VANGL1):c.*1483C>T rs886045127
NM_138959.3(VANGL1):c.*1492G>A rs752428680
NM_138959.3(VANGL1):c.*1492G>T rs752428680
NM_138959.3(VANGL1):c.*1516A>C rs886045128
NM_138959.3(VANGL1):c.*1749G>A rs3811010
NM_138959.3(VANGL1):c.*1749G>T rs3811010
NM_138959.3(VANGL1):c.*2116A>T rs886045131
NM_138959.3(VANGL1):c.*229T>A rs1460622785
NM_138959.3(VANGL1):c.*234A>G rs1653840369
NM_138959.3(VANGL1):c.*2504A>G rs1653939278
NM_138959.3(VANGL1):c.*2541G>A rs886045133
NM_138959.3(VANGL1):c.*2542C>T rs886045134
NM_138959.3(VANGL1):c.*2592T>C rs1653943896
NM_138959.3(VANGL1):c.*2917G>A rs900018260
NM_138959.3(VANGL1):c.*2961T>G rs1653955779
NM_138959.3(VANGL1):c.*2992G>A rs886045135
NM_138959.3(VANGL1):c.*301G>C rs193075321
NM_138959.3(VANGL1):c.*313A>G rs3811012
NM_138959.3(VANGL1):c.*3267C>T rs1457146079
NM_138959.3(VANGL1):c.*3273A>G rs551091101
NM_138959.3(VANGL1):c.*3666G>A rs886045138
NM_138959.3(VANGL1):c.*3720T>C rs886045139
NM_138959.3(VANGL1):c.*3762CAAA[2] rs144395099
NM_138959.3(VANGL1):c.*4041T>C rs755509900
NM_138959.3(VANGL1):c.*4089del rs138659832
NM_138959.3(VANGL1):c.*4209A>G rs1028169993
NM_138959.3(VANGL1):c.*4676C>G rs886045143
NM_138959.3(VANGL1):c.*4731C>T rs144489409
NM_138959.3(VANGL1):c.*4788C>G rs148437823
NM_138959.3(VANGL1):c.*483A>G rs886045122
NM_138959.3(VANGL1):c.*4840T>C rs886045144
NM_138959.3(VANGL1):c.*5008T>A rs117347999
NM_138959.3(VANGL1):c.*5022T>G rs886045145
NM_138959.3(VANGL1):c.*5267G>T rs75064936
NM_138959.3(VANGL1):c.*5413A>C rs886045146
NM_138959.3(VANGL1):c.*5441TC[3] rs886045147
NM_138959.3(VANGL1):c.*5633T>G rs4348723
NM_138959.3(VANGL1):c.*5639_*5640del rs886045148
NM_138959.3(VANGL1):c.*5929G>A rs886045149
NM_138959.3(VANGL1):c.*6084C>G rs536289395
NM_138959.3(VANGL1):c.*634T>C rs546423374
NM_138959.3(VANGL1):c.*6602C>T rs886045153
NM_138959.3(VANGL1):c.*6687A>G rs1654092548
NM_138959.3(VANGL1):c.*6763dup rs5777244
NM_138959.3(VANGL1):c.*89TTC[2] rs746915495
NM_138959.3(VANGL1):c.-171C>A rs886045117
NM_138959.3(VANGL1):c.-226G>C rs116216703
NM_138959.3(VANGL1):c.-247CGG[6] rs886045116
NM_138959.3(VANGL1):c.-24C>T rs886045118
NM_138959.3(VANGL1):c.1201A>C (p.Met401Leu) rs1198149468
NM_138959.3(VANGL1):c.316G>A (p.Asp106Asn) rs867892644
NM_138959.3(VANGL1):c.453G>A (p.Gly151=) rs759094384
NM_138959.3(VANGL1):c.575T>C (p.Leu192Pro) rs561312836
NM_138959.3(VANGL1):c.867C>A (p.Ile289=) rs868487713
NM_181861.2(APAF1):c.104dup (p.Leu35fs) rs1565850856
NM_182643.3(DLC1):c.1432C>T (p.Pro478Ser) rs1303000329
NM_182643.3(DLC1):c.2377C>T (p.Gln793Ter) rs1563593163
NM_182706.5(SCRIB):c.1177C>T (p.Gln393Ter) rs2130127564

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