ClinVar Miner

List of variants reported for Intellectual disability, autosomal recessive 12; Developmental and epileptic encephalopathy, 15 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln) rs553120567 0.00044
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00025
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter) rs1195818093 0.00001

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