ClinVar Miner

List of variants studied for GLUT1 deficiency syndrome by Illumina Laboratory Services, Illumina

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006516.2(SLC2A1):c.-390delA rs28365848 0.23160
NM_006516.2(SLC2A1):c.-490G>C rs3754226 0.14227
NM_006516.2(SLC2A1):c.-424C>G rs867977523 0.01606
NM_006516.2(SLC2A1):c.-368A>C rs528964239 0.00057
NM_006516.4(SLC2A1):c.972+7del rs531385270 0.00016
NM_006516.2(SLC2A1):c.-510G>C rs886046347 0.00007
NM_006516.2(SLC2A1):c.-483G>T rs886046346 0.00005
NM_006516.2(SLC2A1):c.-384G>A rs886046345 0.00003
NM_006516.4(SLC2A1):c.*322T>G rs886046340 0.00003
NM_006516.2(SLC2A1):c.-225T>G rs886046343 0.00002
NM_006516.2(SLC2A1):c.-242C>T rs561646847 0.00002
NM_006516.2(SLC2A1):c.-272G>A rs886046344 0.00001
NM_006516.2(SLC2A1):c.-388G>T rs544483207

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