List of variants studied for Pontocerebellar hypoplasia type 2E by Genome-Nilou Lab

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001128159.3(VPS53):c.1117-26T>C	rs4968055	0.96284
NM_001128159.3(VPS53):c.2328+15A>G	rs2034088	0.63097
NM_001128159.3(VPS53):c.1557-30T>C	rs741677	0.51785
NM_001128159.3(VPS53):c.1218+817A>G	rs11247553	0.48461
NM_001128159.3(VPS53):c.-90C>T	rs2474694	0.44823
NM_001128159.3(VPS53):c.1867-81C>T	rs7219151	0.40515
NM_001128159.3(VPS53):c.218+102C>G	rs2543781	0.38294
NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=)	rs2075443	0.33961
NM_001128159.3(VPS53):c.1117-91C>G	rs7225041	0.30116
NM_001128159.3(VPS53):c.219-11T>C	rs4968100	0.19527
NM_001128159.3(VPS53):c.81C>T (p.Ile27=)	rs11558129	0.16882
NM_001128159.3(VPS53):c.1867-71T>C	rs12951098	0.15268
NM_001128159.3(VPS53):c.1117-3C>T	rs56807006	0.08020
NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val)	rs140376049	0.00139
NM_001128159.3(VPS53):c.1218+57G>C	rs10521105
NM_001128159.3(VPS53):c.1314-19dup	rs36070043

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