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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs)	rs755246924	0.00002
NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg)	rs797046051	0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)	rs113994149	0.00001
NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys)	rs1477347690
NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del)	rs797046052
NM_025265.4(TSEN2):c.904G>A (p.Glu302Lys)	rs1553587071

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