ClinVar Miner

List of variants reported as benign for caudal regression-sirenomelia spectrum by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_138959.3(VANGL1):c.*505A>G rs6700610 0.67885
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_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.*3023G>T rs10923204 0.24904
NM_138959.3(VANGL1):c.*6026G>A rs6428677 0.24227
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_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_138959.3(VANGL1):c.*2043C>T rs74117021 0.02749
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_138959.3(VANGL1):c.*5444C>G rs142497673 0.00486
NM_138959.3(VANGL1):c.*5267G>A rs75064936 0.00465
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.*3742A>T rs115376031 0.00360
NM_138959.3(VANGL1):c.330C>T (p.Tyr110=) rs41275546 0.00358
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.*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.523C>T (p.Arg175Trp) rs142594314 0.00128
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.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.*3409T>C rs140931431 0.00056
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.-115G>C rs181583261 0.00026
NM_138959.3(VANGL1):c.*25A>T rs577473121 0.00018
NM_138959.3(VANGL1):c.1127A>G (p.Gln376Arg) rs200389969 0.00009
NM_138959.3(VANGL1):c.*707C>T rs562969850 0.00005
NM_138959.3(VANGL1):c.*2344A>C rs531884184 0.00001
NM_138959.3(VANGL1):c.*3150T>C rs148126079 0.00001
NM_138959.3(VANGL1):c.*3559G>A rs544552151 0.00001
NM_138959.3(VANGL1):c.*1749G>T rs3811010
NM_138959.3(VANGL1):c.*313A>G rs3811012
NM_138959.3(VANGL1):c.*4788C>G rs148437823
NM_138959.3(VANGL1):c.*5008T>A rs117347999
NM_138959.3(VANGL1):c.*5633T>G rs4348723
NM_138959.3(VANGL1):c.*6084C>G rs536289395
NM_138959.3(VANGL1):c.-226G>C rs116216703
NM_138959.3(VANGL1):c.575T>C (p.Leu192Pro) rs561312836

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