ClinVar Miner

List of variants reported as likely pathogenic for Cerebellar ataxia; Global developmental delay; Autistic behavior; Intellectual disability 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.1718A>G (p.Tyr573Cys) rs1761282515

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