ClinVar Miner

List of variants reported as likely benign for congenital brain dysgenesis due to glutamine synthetase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001033044.4(GLUL):c.*2021G>T rs16858921 0.03236
NM_001033044.4(GLUL):c.*922A>G rs8762 0.03233
NM_001033044.4(GLUL):c.*465A>G rs16828882 0.03228
NM_001033044.4(GLUL):c.-125A>G rs112448103 0.03169
NM_002065.6(GLUL):c.-899T>C rs59310772 0.03155
NM_001033044.4(GLUL):c.*1762A>G rs138138013 0.00633
NM_001033044.4(GLUL):c.603+5G>A rs140378060 0.00329
NM_001033044.4(GLUL):c.-14+905T>C rs78752021 0.00297
NM_001033044.4(GLUL):c.*1357T>G rs180970725 0.00153
NM_001033044.4(GLUL):c.-14+1168C>T rs149699916 0.00039
NM_001033044.4(GLUL):c.*2074G>A rs185466076 0.00026
NM_001033044.4(GLUL):c.*2494G>T rs77070600 0.00023
NM_001033044.4(GLUL):c.*1467GT[1] rs138636848
NM_001033044.4(GLUL):c.*684dup rs200642235
NM_001033044.4(GLUL):c.-14+853_-14+855del rs140356059

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