ClinVar Miner

List of variants reported as likely pathogenic for Unverricht-Lundborg syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000100.4(CSTB):c.10G>T (p.Gly4Trp) rs74315443 0.00001
NM_000100.4(CSTB):c.125C>A (p.Ser42Ter) rs386833439 0.00001
NM_000100.4(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.4(CSTB):c.169-2A>G rs386833441
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.4(CSTB):c.66G>A (p.Gln22=) rs386833443

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