ClinVar Miner

List of variants studied for TELO2-related intellectual disability-neurodevelopmental disorder by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00017
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp) rs187225056 0.00006

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