ClinVar Miner

List of variants reported as not provided for Childhood onset GLUT1 deficiency syndrome 2 by GenomeConnect, ClinGen

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010

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