ClinVar Miner

List of variants reported as pathogenic for Pontocerebellar hypoplasia type 2A by Genetic Services Laboratory, University of Chicago

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter)	rs797046054
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs)	rs797046055
NM_207346.3(TSEN54):c.823del (p.Val275fs)	rs797046057

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