ClinVar Miner

List of variants reported as uncertain significance for Childhood onset GLUT1 deficiency syndrome 2 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 2

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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.517-1G>C	rs869312673

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