ClinVar Miner

List of variants reported as likely pathogenic for Dystonia 28, childhood-onset

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Total variants: 6
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HGVS dbSNP
NM_014727.2(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014727.2(KMT2B):c.1690C>T (p.Arg564Ter) rs1057519283
NM_014727.2(KMT2B):c.2428C>T (p.Gln810Ter) rs1057519281
NM_014727.2(KMT2B):c.4545C>A (p.Tyr1515Ter) rs1057519284
NM_014727.2(KMT2B):c.4931G>T (p.Cys1644Phe) rs1555731819
NM_014727.2(KMT2B):c.5335C>T (p.Arg1779Ter) rs1568379151

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