ClinVar Miner

List of variants reported as pathogenic for Global developmental delay; Intellectual disability; Bradykinesia; Motor tics by Institute for Human Genetics, University Hospital Essen

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_021614.4(KCNN2):c.1713T>G (p.Ile571Met) rs1761282406

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