ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_006516.3(SLC2A1):c.517-1G>C rs869312673
NM_006516.3(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly) rs1050933017

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