ClinVar Miner

List of variants studied for childhood onset GLUT1 deficiency syndrome 2 by Baylor Genetics

Included ClinVar conditions (6):

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; Childhood onset GLUT1 deficiency syndrome 2
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
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.141A>T (p.Thr47=)	rs150863093
NM_006516.4(SLC2A1):c.19-2A>G	rs796053272
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)	rs794729221

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