ClinVar Miner

List of variants studied for GLUT1 deficiency syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.376C>G (p.Arg126Gly)
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	rs80359816
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del)	rs80359832
NM_006516.4(SLC2A1):c.728A>T (p.Glu243Val)	rs2124449030
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)	rs80359823
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)	rs1553155986

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