ClinVar Miner

List of variants studied for GLUT1 deficiency syndrome by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)	rs1050933017	0.00001
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu)	rs1302959508	0.00001
NM_006516.4(SLC2A1):c.517-1G>C	rs869312673
NM_006516.4(SLC2A1):c.574_575del (p.Ile192fs)	rs878853161
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe)	rs794727870
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)	rs1553155986

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