ClinVar Miner

List of variants in gene SLC2A1 studied for 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
Gene type: Distinguish antisense genes from sense genes

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met)	rs577667739	0.00003

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