ClinVar Miner

List of variants reported as likely pathogenic for Pontocerebellar hypoplasia type 2B

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Total variants: 4
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HGVS dbSNP
NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys) rs1477347690
NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg) rs797046051
NM_025265.4(TSEN2):c.138_140CAA[1] (p.Asn48del) rs797046052
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs) rs755246924

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