ClinVar Miner

List of variants reported as uncertain significance for GLUT1 deficiency syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
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.*1337A>C rs113441673 0.00038
NM_006516.4(SLC2A1):c.972+7del rs531385270 0.00016
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr) rs5811 0.00013
NM_006516.4(SLC2A1):c.*1016A>G rs886046334 0.00012
NM_006516.4(SLC2A1):c.*587A>T rs748209315 0.00010
NM_006516.4(SLC2A1):c.*651G>T rs886046337 0.00009
NM_006516.4(SLC2A1):c.*784A>G rs886046335 0.00009
NM_006516.2(SLC2A1):c.-510G>C rs886046347 0.00007
NM_006516.4(SLC2A1):c.*560T>C rs545613558 0.00007
NM_006516.4(SLC2A1):c.*609G>C rs1020397288 0.00007
NM_006516.4(SLC2A1):c.*750T>A rs886046336 0.00006
NM_006516.4(SLC2A1):c.18+12G>T rs587781171 0.00006
NM_006516.2(SLC2A1):c.-483G>T rs886046346 0.00005
NM_006516.4(SLC2A1):c.*368A>C rs946103123 0.00005
NM_006516.4(SLC2A1):c.*413G>A rs543194486 0.00005
NM_006516.4(SLC2A1):c.-129G>T rs936174986 0.00004
NM_006516.4(SLC2A1):c.-192G>C rs886046342 0.00004
NM_006516.4(SLC2A1):c.-194G>A rs984267596 0.00004
NM_006516.2(SLC2A1):c.-384G>A rs886046345 0.00003
NM_006516.4(SLC2A1):c.*1149C>A rs779668330 0.00003
NM_006516.4(SLC2A1):c.*1246G>A rs886046330 0.00003
NM_006516.4(SLC2A1):c.*1281A>G rs1057515458 0.00003
NM_006516.4(SLC2A1):c.*322T>G rs886046340 0.00003
NM_006516.4(SLC2A1):c.*597G>A rs886046338 0.00003
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met) rs577667739 0.00003
NM_006516.2(SLC2A1):c.-225T>G rs886046343 0.00002
NM_006516.4(SLC2A1):c.*514G>T rs886046339 0.00002
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser) rs765479065 0.00002
NM_006516.2(SLC2A1):c.-272G>A rs886046344 0.00001
NM_006516.4(SLC2A1):c.*107G>A rs1643432524 0.00001
NM_006516.4(SLC2A1):c.*1205C>T rs886046331 0.00001
NM_006516.4(SLC2A1):c.*1321T>A rs1222650517 0.00001
NM_006516.4(SLC2A1):c.*775A>G rs779010320 0.00001
NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=) rs748983257 0.00001
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val) rs1399284513 0.00001
NM_006516.2(SLC2A1):c.-388G>T rs544483207
NM_006516.4(SLC2A1):c.*1079T>G rs1426402573
NM_006516.4(SLC2A1):c.*1081T>A rs886046333
NM_006516.4(SLC2A1):c.*1147G>C rs886046332
NM_006516.4(SLC2A1):c.*1337A>G rs113441673
NM_006516.4(SLC2A1):c.*1564C>T rs1057515570
NM_006516.4(SLC2A1):c.*1611T>C rs1057515457
NM_006516.4(SLC2A1):c.*216C>T rs1643431578
NM_006516.4(SLC2A1):c.*92G>A rs1266657991
NM_006516.4(SLC2A1):c.-202G>C rs1016572946
NM_006516.4(SLC2A1):c.132C>T (p.Tyr44=) rs886046341
NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe) rs1643484697
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=) rs1392755923
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=) rs753500924

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