ClinVar Miner

List of variants in gene VANGL1 reported as uncertain significance for spina bifida

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_138959.3(VANGL1):c.*5267G>A rs75064936 0.00465
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.*1043A>G rs150705915 0.00210
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.*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.*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.*3598A>G rs187286147 0.00036
NM_138959.3(VANGL1):c.*801A>C rs768206672 0.00034
NM_138959.3(VANGL1):c.*5862G>A rs868196412 0.00031
NM_138959.3(VANGL1):c.1172G>T (p.Arg391Met) rs140485834 0.00021
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.*3290A>G rs1378359750 0.00009
NM_138959.3(VANGL1):c.98C>T (p.Ser33Leu) rs78535164 0.00009
NM_138959.3(VANGL1):c.*932dup rs886045124 0.00008
NM_138959.3(VANGL1):c.612C>T (p.Tyr204=) rs577862345 0.00008
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.*5993C>G rs886045150 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_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_138959.3(VANGL1):c.*5036G>A rs1432374941 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.*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_138959.3(VANGL1):c.*1970C>A rs746455152 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
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.*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.*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.*4041T>C rs755509900
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.*483A>G rs886045122
NM_138959.3(VANGL1):c.*4840T>C rs886045144
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.*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.*89TTC[2] rs746915495
NM_138959.3(VANGL1):c.-171C>A rs886045117
NM_138959.3(VANGL1):c.-247CGG[6] rs886045116
NM_138959.3(VANGL1):c.-24C>T rs886045118
NM_138959.3(VANGL1):c.1084_1093del (p.Val362fs)
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

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