ClinVar Miner

List of variants studied for GLUT1 deficiency syndrome by GeneReviews

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)	rs267607059
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	rs80359816
NM_006516.4(SLC2A1):c.377G>T (p.Arg126Leu)	rs80359816
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val)	rs80359822
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)	rs80359823
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)	rs80359825

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