ClinVar Miner

List of variants reported as likely pathogenic for GLUT1 deficiency syndrome by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser) rs2124446500
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val) rs1570590528
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile) rs80359824

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