ClinVar Miner

List of variants reported as likely benign for congenital brain dysgenesis due to glutamine synthetase deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001033044.4(GLUL):c.603+5G>A rs140378060 0.00329
NM_001033044.4(GLUL):c.881T>G (p.Leu294Arg) rs189435460 0.00054
NM_001033044.4(GLUL):c.328+16G>A rs371238132 0.00039
NM_001033044.4(GLUL):c.880C>T (p.Leu294=) rs199824213 0.00026
NM_001033044.4(GLUL):c.329-18A>T rs200242040 0.00024
NM_001033044.4(GLUL):c.604-5T>C rs759738919 0.00023
NM_001033044.4(GLUL):c.166+12A>G rs368203669 0.00012
NM_001033044.4(GLUL):c.167-12T>A rs367852420 0.00012
NM_001033044.4(GLUL):c.726C>T (p.Pro242=) rs111467270 0.00010
NM_001033044.4(GLUL):c.604-9C>T rs775437860 0.00005
NM_001033044.4(GLUL):c.930C>T (p.Asn310=) rs369280031 0.00004
NM_001033044.4(GLUL):c.784C>A (p.Arg262=) rs532199483 0.00003
NM_001033044.4(GLUL):c.366C>T (p.Asp122=) rs375568739 0.00002
NM_001033044.4(GLUL):c.604-8G>A rs770004985 0.00002
NM_001033044.4(GLUL):c.57C>T (p.Ser19=) rs1381592080 0.00001
NM_001033044.4(GLUL):c.603+16A>G rs556834480 0.00001
NM_001033044.4(GLUL):c.651T>C (p.His217=) rs1258962476 0.00001
NM_001033044.4(GLUL):c.675G>A (p.Leu225=) rs758842329 0.00001
NM_001033044.4(GLUL):c.996G>A (p.Glu332=) rs747299742 0.00001
NM_001033044.4(GLUL):c.1038C>T (p.Cys346=)
NM_001033044.4(GLUL):c.1044C>G (p.Pro348=)
NM_001033044.4(GLUL):c.1065C>T (p.Leu355=)
NM_001033044.4(GLUL):c.166+13T>C
NM_001033044.4(GLUL):c.166+15T>G
NM_001033044.4(GLUL):c.177G>A (p.Glu59=)
NM_001033044.4(GLUL):c.237C>T (p.Leu79=)
NM_001033044.4(GLUL):c.255T>C (p.Phe85=)
NM_001033044.4(GLUL):c.328+14C>T
NM_001033044.4(GLUL):c.329-20T>G
NM_001033044.4(GLUL):c.426A>G (p.Thr142=)
NM_001033044.4(GLUL):c.475+18A>T
NM_001033044.4(GLUL):c.475+9C>T
NM_001033044.4(GLUL):c.476-10G>A
NM_001033044.4(GLUL):c.603+16A>T
NM_001033044.4(GLUL):c.753C>T (p.Gly251=)
NM_001033044.4(GLUL):c.810C>T (p.Ile270=)
NM_001033044.4(GLUL):c.870C>G (p.Pro290=)
NM_001033044.4(GLUL):c.898C>T (p.Leu300=)

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