ClinVar Miner

List of variants in gene SC5D reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006918.5(SC5D):c.*81A>C rs1061332 0.72847
NM_006918.5(SC5D):c.*1626A>T rs2060008 0.49477
NM_006918.5(SC5D):c.*4924T>C rs35288685 0.46507
NM_006918.5(SC5D):c.*3627A>G rs2115925 0.10559
NM_006918.5(SC5D):c.*1328C>T rs7942396 0.07530
NM_006918.5(SC5D):c.*2986C>T rs141633273 0.06779
NM_006918.5(SC5D):c.*5224A>G rs76249891 0.03180
NM_006918.5(SC5D):c.*5742T>C rs73592766 0.02058
NM_006918.5(SC5D):c.*3345C>T rs79862582 0.01118
NM_006918.5(SC5D):c.*5324_*5325del rs199751132 0.00991
NM_006918.5(SC5D):c.*1851C>G rs73592762 0.00797
NM_006918.5(SC5D):c.*3196C>T rs111744316 0.00745
NM_006918.5(SC5D):c.211-8A>T rs116993308 0.00730
NM_006918.5(SC5D):c.*2662G>A rs7125671 0.00682
NM_006918.5(SC5D):c.*4912C>T rs148376006 0.00598
NM_006918.5(SC5D):c.*2265C>G rs140956982 0.00353
NM_006918.5(SC5D):c.*4342C>T rs149181033 0.00317
NM_006918.5(SC5D):c.*3699G>A rs546816764 0.00287
NM_006918.5(SC5D):c.*981C>T rs185962880 0.00266
NM_006918.5(SC5D):c.*367A>T rs139178876 0.00241
NM_006918.5(SC5D):c.*582A>G rs11551924 0.00213
NM_006918.5(SC5D):c.*2430C>T rs529785402 0.00211
NM_006918.5(SC5D):c.*2277A>G rs562285193 0.00177
NM_006918.5(SC5D):c.*2963del rs886047862 0.00161
NM_006918.5(SC5D):c.*1876G>T rs151210671 0.00123
NM_006918.5(SC5D):c.544A>G (p.Ile182Val) rs144180704 0.00116
NM_006918.5(SC5D):c.*1468C>G rs187197929 0.00103
NM_006918.5(SC5D):c.*2873A>G rs186742359 0.00092
NM_006918.5(SC5D):c.*622C>T rs184338020 0.00080
NM_006918.5(SC5D):c.*3472A>G rs138274984 0.00064
NM_006918.5(SC5D):c.*1195A>G rs182551279 0.00058
NM_006918.5(SC5D):c.*3937C>T rs187660234 0.00056
NM_006918.5(SC5D):c.*4087T>C rs192923811 0.00045
NM_006918.5(SC5D):c.*2653A>T rs758365341 0.00043
NM_006918.5(SC5D):c.*628C>T rs973950376 0.00038
NM_006918.5(SC5D):c.*263G>A rs146228207 0.00037
NM_006918.5(SC5D):c.*3095G>A rs190358763 0.00035
NM_006918.5(SC5D):c.*1685C>T rs148657439 0.00033
NM_006918.5(SC5D):c.*5255A>T rs557724633 0.00033
NM_006918.5(SC5D):c.*3184A>G rs886047864 0.00031
NM_006918.5(SC5D):c.*5357T>C rs576690007 0.00030
NM_006918.5(SC5D):c.*3065C>T rs756525915 0.00021
NM_006918.5(SC5D):c.*4469G>A rs73017147 0.00018
NM_006918.5(SC5D):c.343+3A>G rs186378511 0.00015
NM_006918.5(SC5D):c.*313A>T rs553818571 0.00014
NM_006918.5(SC5D):c.*4597A>T rs571819564 0.00014
NM_006918.5(SC5D):c.*5534C>G rs768733065 0.00013
NM_006918.5(SC5D):c.*3110G>A rs747694342 0.00011
NM_006918.5(SC5D):c.*5200C>T rs183946033 0.00010
NM_006918.5(SC5D):c.344-15C>T rs570720353 0.00010
NM_006918.5(SC5D):c.*1681T>C rs1020460658 0.00009
NM_006918.5(SC5D):c.*3003T>A rs915768614 0.00009
NM_006918.5(SC5D):c.*3599C>T rs886047868 0.00009
NM_006918.5(SC5D):c.753C>T (p.Gly251=) rs201959036 0.00009
NM_006918.5(SC5D):c.*5855G>A rs762824572 0.00008
NM_006918.5(SC5D):c.444+11T>C rs760625340 0.00007
NM_006918.5(SC5D):c.*1860A>G rs886047859 0.00006
NM_006918.5(SC5D):c.*2520A>G rs886047861 0.00006
NM_006918.5(SC5D):c.*3106G>A rs886047863 0.00006
NM_006918.5(SC5D):c.*5324A>C rs886047879 0.00006
NM_006918.5(SC5D):c.*5717C>G rs912515665 0.00006
NM_006918.5(SC5D):c.*229G>A rs928598332 0.00005
NM_006918.5(SC5D):c.*160G>A rs568068471 0.00004
NM_006918.5(SC5D):c.*1720C>T rs1207486166 0.00004
NM_006918.5(SC5D):c.*4576T>A rs183742147 0.00004
NM_006918.5(SC5D):c.*5630C>T rs886047881 0.00004
NM_006918.5(SC5D):c.*584C>T rs1035758340 0.00004
NM_006918.5(SC5D):c.*1012T>C rs886047853 0.00003
NM_006918.5(SC5D):c.*1818A>G rs886047858 0.00003
NM_006918.5(SC5D):c.*2212C>A rs930790807 0.00003
NM_006918.5(SC5D):c.*3070C>T rs563938795 0.00003
NM_006918.5(SC5D):c.*3346G>A rs745556623 0.00003
NM_006918.5(SC5D):c.*4432T>A rs188860035 0.00003
NM_006918.5(SC5D):c.*5061A>G rs886047875 0.00003
NM_006918.5(SC5D):c.224G>A (p.Arg75Gln) rs780028779 0.00003
NM_006918.5(SC5D):c.*1305A>C rs750271628 0.00002
NM_006918.5(SC5D):c.*3246C>T rs1274821065 0.00002
NM_006918.5(SC5D):c.*4454G>A rs1026656844 0.00002
NM_006918.5(SC5D):c.*598T>C rs886047852 0.00002
NM_006918.5(SC5D):c.*1711T>C rs886047857 0.00001
NM_006918.5(SC5D):c.*2183C>G rs576310551 0.00001
NM_006918.5(SC5D):c.*3225G>A rs886047866 0.00001
NM_006918.5(SC5D):c.*4400T>C rs886047872 0.00001
NM_006918.5(SC5D):c.*5260A>G rs565484939 0.00001
NM_006918.5(SC5D):c.*5640T>C rs886047882 0.00001
NM_006918.5(SC5D):c.344-8T>C rs765331892 0.00001
NM_006918.5(SC5D):c.843A>G (p.Ser281=) rs778899115 0.00001
NM_006918.4(SC5D):c.-127T>G rs886047847
NM_006918.5(SC5D):c.*1087_*1090del rs886047854
NM_006918.5(SC5D):c.*1196T>A rs886047855
NM_006918.5(SC5D):c.*1223A>T rs886047856
NM_006918.5(SC5D):c.*2363G>A rs1947996125
NM_006918.5(SC5D):c.*2477C>G rs886047860
NM_006918.5(SC5D):c.*2648A>T rs549226558
NM_006918.5(SC5D):c.*2802A>T rs1947999658
NM_006918.5(SC5D):c.*2819T>C rs534935957
NM_006918.5(SC5D):c.*2864G>T rs1204504455
NM_006918.5(SC5D):c.*2879G>T rs1948000294
NM_006918.5(SC5D):c.*2943C>T rs781723851
NM_006918.5(SC5D):c.*2962del rs5795265
NM_006918.5(SC5D):c.*3006C>T rs890214835
NM_006918.5(SC5D):c.*3116T>C rs959383306
NM_006918.5(SC5D):c.*3175C>T rs1948004049
NM_006918.5(SC5D):c.*3200G>A rs886047865
NM_006918.5(SC5D):c.*3312A>T rs886047867
NM_006918.5(SC5D):c.*3665C>T rs886047869
NM_006918.5(SC5D):c.*3793_*3794del rs879172922
NM_006918.5(SC5D):c.*3955C>T rs886047871
NM_006918.5(SC5D):c.*4752A>T rs886047873
NM_006918.5(SC5D):c.*4756A>G rs566838476
NM_006918.5(SC5D):c.*5018T>C rs886047874
NM_006918.5(SC5D):c.*512G>A rs886047851
NM_006918.5(SC5D):c.*5132C>T rs886047876
NM_006918.5(SC5D):c.*5210C>T rs1948020352
NM_006918.5(SC5D):c.*5239_*5241del rs886047877
NM_006918.5(SC5D):c.*5258del rs886047878
NM_006918.5(SC5D):c.*5282C>T rs73017154
NM_006918.5(SC5D):c.*5329G>C rs886047880
NM_006918.5(SC5D):c.*5440A>G rs1948022595
NM_006918.5(SC5D):c.*5834A>G rs886047883
NM_006918.5(SC5D):c.*99C>T rs1947977662
NM_006918.5(SC5D):c.151A>G (p.Thr51Ala) rs1565568966
NM_006918.5(SC5D):c.181G>A (p.Ala61Thr) rs1947941103
NM_006918.5(SC5D):c.447C>T (p.Arg149=) rs886047850
NM_006918.5(SC5D):c.624T>G (p.Ile208Met) rs1947973083
NM_006918.5(SC5D):c.662C>T (p.Pro221Leu) rs1947973564

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.