ClinVar Miner

List of variants studied for Childhood onset GLUT1 deficiency syndrome 2 by MGZ Medical Genetics Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.1436C>A (p.Pro479His)
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986

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