ClinVar Miner

List of variants reported as likely pathogenic for GLUT1 deficiency syndrome 1

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Total variants: 4
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HGVS dbSNP
NC_000001.11:g.42943238A>C
NM_006516.3(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.3(SLC2A1):c.621_629del (p.Glu209_Pro211del) rs1557646075
NM_006516.3(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986

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