List of variants studied for Unverricht-Lundborg syndrome by GeneReviews

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000100.4(CSTB):c.67-1G>C	rs147484110	0.00027
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His)	rs281865563	0.00004
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)	rs113994140	0.00003
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.125C>A (p.Ser42Ter)	rs386833439	0.00001
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)	rs545986367	0.00001
NM_000100.4(CSTB):c.149G>A (p.Gly50Glu)	rs312262708	0.00001
NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[30_125]
NM_000100.4(CSTB):c.168+2_168+19del	rs312262707
NM_000100.4(CSTB):c.168+2_168+21delinsAA	rs864309482
NM_000100.4(CSTB):c.168G>A (p.Lys56=)	rs386833440
NM_000100.4(CSTB):c.169-2A>G	rs386833441
NM_000100.4(CSTB):c.212A>C (p.Gln71Pro)	rs121909346
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)	rs796943858
NM_000100.4(CSTB):c.66G>A (p.Gln22=)	rs386833443
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His)	rs281865564

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