ClinVar Miner

List of variants reported as likely pathogenic for Childhood onset GLUT1 deficiency syndrome 2 by Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr) rs1643481875
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro) rs2124449089

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