ClinVar Miner

List of variants reported as pathogenic for GLUT1 deficiency syndrome by Mendelics

Included ClinVar conditions (8):

Childhood onset GLUT1 deficiency syndrome 2
Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12
Encephalopathy due to GLUT1 deficiency
Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2
GLUT1 deficiency syndrome
Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2
Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12
Hereditary cryohydrocytosis with reduced stomatin; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.274del (p.Arg92fs)	rs1570593820
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter)	rs1570592933
NM_006516.4(SLC2A1):c.624del (p.Glu209fs)	rs1570592844
NM_006516.4(SLC2A1):c.625G>T (p.Glu209Ter)	rs1387203768
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)	rs794729221

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