List of variants reported as uncertain significance for Pontocerebellar hypoplasia type 2E

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001128159.3(VPS53):c.2365C>G (p.Leu789Val)	rs1010638222	0.00008
NM_001128159.3(VPS53):c.1247C>A (p.Pro416Gln)	rs766555766	0.00007
NM_001128159.3(VPS53):c.2329G>C (p.Gly777Arg)	rs1191869765	0.00001
NM_001128159.3(VPS53):c.2420T>C (p.Leu807Pro)	rs771439682	0.00001
NM_001128159.3(VPS53):c.584C>T (p.Pro195Leu)	rs548219603	0.00001
NM_001128159.3(VPS53):c.959T>G (p.Phe320Cys)	rs1302881349	0.00001
NM_001128159.3(VPS53):c.2006A>G (p.Lys669Arg)	rs1910135011
NM_001128159.3(VPS53):c.2347C>T (p.Gln783Ter)	rs1434668575

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