ClinVar Miner

List of variants reported as pathogenic for GLUT1 deficiency syndrome by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)	rs80359812
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile)	rs1057520545
NM_006516.4(SLC2A1):c.500del (p.Gly167fs)
NM_006516.4(SLC2A1):c.732del (p.Met244fs)	rs1553156069

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