ClinVar Miner

List of variants studied for Childhood onset GLUT1 deficiency syndrome 2 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 3
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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
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870

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