ClinVar Miner

List of variants reported as uncertain significance for childhood onset GLUT1 deficiency syndrome 2 by Fulgent Genetics, Fulgent 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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys)	rs200247956	0.00022
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)	rs200828053	0.00006
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His)	rs201815571	0.00001
NM_006516.4(SLC2A1):c.679+5G>A	rs771386274	0.00001
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg)	rs375853334	0.00001
NM_006516.4(SLC2A1):c.1407G>T (p.Gln469His)

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