List of variants reported as pathogenic for Unverricht-Lundborg syndrome

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000100.4(CSTB):c.67-1G>C	rs147484110	0.00027
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)	rs74315442	0.00002
NM_000100.4(CSTB):c.10G>C (p.Gly4Arg)	rs74315443	0.00001
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)	rs545986367	0.00001
NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[30_125]
NM_000100.3(CSTB):c.-210CCCCGCCCCGCG[2_3]
NM_000100.4(CSTB):c.212A>C (p.Gln71Pro)	rs121909346
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)	rs796943858

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