ClinVar Miner

List of variants studied for spondyloepiphyseal dysplasia tarda, X-linked by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001011658.4(TRAPPC2):c.*1739C>G rs7716 0.70553
NM_001011658.4(TRAPPC2):c.*830G>C rs1964206 0.65101
NM_001011658.4(TRAPPC2):c.*1052T>C rs5979952 0.28849
NM_001011658.4(TRAPPC2):c.*263T>C rs377210137 0.03618
NM_001011658.4(TRAPPC2):c.*1599T>C rs146362855 0.01547
NM_001011658.4(TRAPPC2):c.*490C>T rs186451206 0.01542
NM_001011658.4(TRAPPC2):c.*1963A>G rs147081718 0.01377
NM_001011658.4(TRAPPC2):c.*1229C>T rs141809461 0.00973
NM_001011658.4(TRAPPC2):c.*1443G>A rs148298471 0.00704
NM_001011658.4(TRAPPC2):c.*1128C>T rs181174972 0.00702
NM_001011658.4(TRAPPC2):c.*942G>T rs768568672 0.00401
NM_001011658.4(TRAPPC2):c.*393G>C rs748998980 0.00336
NM_001011658.4(TRAPPC2):c.*394T>C rs780042144 0.00274
NM_001011658.4(TRAPPC2):c.*709C>G rs181594125 0.00235
NM_001011658.4(TRAPPC2):c.*641G>A rs752947538 0.00203
NM_001011658.4(TRAPPC2):c.*849C>T rs112880750 0.00172
NM_001011658.4(TRAPPC2):c.*2035C>T rs41297317 0.00102
NM_001011658.4(TRAPPC2):c.*1032T>C rs1412886464 0.00039
NM_001011658.4(TRAPPC2):c.*546G>A rs777240291 0.00035
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983 0.00034
NM_001011658.4(TRAPPC2):c.*710T>C rs141763219 0.00033
NM_001011658.4(TRAPPC2):c.*1050C>T rs184686872 0.00029
NM_001011658.4(TRAPPC2):c.*1486G>A rs187740735 0.00025
NM_001011658.4(TRAPPC2):c.*752A>G rs1057515791 0.00017
NM_001011658.4(TRAPPC2):c.*1288T>G rs1417991590 0.00010
NM_001011658.4(TRAPPC2):c.*187A>T rs1427810998 0.00010
NM_001011658.4(TRAPPC2):c.*302A>G rs771210112 0.00009
NM_001011658.4(TRAPPC2):c.*670C>T rs1429642104 0.00009
NM_001011658.4(TRAPPC2):c.*867C>T rs1471265901 0.00008
NM_001011658.4(TRAPPC2):c.93+7A>G rs374796724 0.00008
NM_001011658.4(TRAPPC2):c.*1287G>T rs1165831875 0.00005
NM_001011658.4(TRAPPC2):c.*308G>A rs1457504825 0.00005
NM_001011658.4(TRAPPC2):c.*323T>G rs1057515792 0.00005
NM_001011658.4(TRAPPC2):c.*435A>G rs368897746 0.00005
NM_001011658.4(TRAPPC2):c.*1442C>T rs771455096 0.00003
NM_001011658.4(TRAPPC2):c.*333G>A rs747205131 0.00003
NM_001011658.4(TRAPPC2):c.-19-3T>C rs781420575 0.00003
NM_001011658.4(TRAPPC2):c.*332C>T rs1448063407 0.00002
NM_001011658.4(TRAPPC2):c.*703G>A rs554971161 0.00002
NM_001011658.4(TRAPPC2):c.*1191C>T rs1057515789 0.00001
NM_001011658.4(TRAPPC2):c.*1634G>T rs187464655 0.00001
NM_001011658.4(TRAPPC2):c.*690T>C rs1478481249 0.00001
NM_001011658.4(TRAPPC2):c.*1436C>G rs192328990
NM_001011658.4(TRAPPC2):c.*1436C>T rs192328990
NM_001011658.4(TRAPPC2):c.*179A>T rs1057515796
NM_001011658.4(TRAPPC2):c.*2060G>A rs1057515788
NM_001011658.4(TRAPPC2):c.*243G>T rs1057515795
NM_001011658.4(TRAPPC2):c.*465T>G rs780841342
NM_001011658.4(TRAPPC2):c.*522G>A rs2046249479
NM_001011658.4(TRAPPC2):c.*712A>G rs1276471670
NM_001011658.4(TRAPPC2):c.*949G>T rs2106707
NM_001011658.4(TRAPPC2):c.*989G>T rs1449359101
NM_001011658.4(TRAPPC2):c.-179G>C rs1057515797

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