ClinVar Miner

List of variants reported as uncertain significance for caudal regression-sirenomelia spectrum

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_138959.3(VANGL1):c.*2695C>A rs540290490 0.00195
NM_138959.3(VANGL1):c.*758G>A rs546932643 0.00140
NM_138959.3(VANGL1):c.*2708G>A rs565246095 0.00084
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.*2099G>T rs886045129 0.00054
NM_138959.3(VANGL1):c.-145G>T rs559438343 0.00052
NM_138959.3(VANGL1):c.*2460C>T rs886045132 0.00047
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.*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.*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.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.542G>A (p.Arg181Gln) rs761123443 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.681G>A (p.Val227=) rs201698322 0.00004
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.*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.*3289A>G rs886045136 0.00001
NM_138959.3(VANGL1):c.*340C>G rs886045121 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.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.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.*483A>G rs886045122
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.*5929G>A rs886045149
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.-171C>A rs886045117
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.867C>A (p.Ile289=) rs868487713

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