ClinVar Miner

List of variants reported as uncertain significance for childhood onset GLUT1 deficiency syndrome 2 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735
NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=) rs75852730
NM_006516.3(SLC2A1):c.192C>G (p.Leu64=) rs762583668
NM_006516.3(SLC2A1):c.75G>A (p.Gln25=) rs1557651193

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