ClinVar Miner

List of variants reported for Pontocerebellar hypoplasia type 2B by Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter) rs376815626 0.00001
NM_025265.4(TSEN2):c.904G>A (p.Glu302Lys) rs1553587071

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