ClinVar Miner

List of variants studied for Childhood onset GLUT1 deficiency syndrome 2 by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.1043_1044insT (p.Ile349fs) rs2124447951
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
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)

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