ClinVar Miner

List of variants in gene combination SNHG14, UBE3A studied for Global developmental delay; Expressive language delay; Seizures; Abnormality of the corpus callosum; EEG abnormality; Poor speech

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Gene type:
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Total variants: 1
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NM_130839.5(UBE3A):c.2272G>A (p.Gly758Arg) rs1057518770

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