ClinVar Miner

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

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Total variants: 8
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NM_006516.3(SLC2A1):c.1179del (p.Glu393fs) rs1553155887
NM_006516.3(SLC2A1):c.1264T>C (p.Phe422Leu) rs1570590834
NM_006516.3(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.3(SLC2A1):c.276-1G>A rs1570593665
NM_006516.4(SLC2A1):c.1276G>T (p.Glu426Ter)
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys)

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