ClinVar Miner

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

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Total variants: 12
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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.4960T>C (p.Cys1654Arg) rs1599689373
NM_014727.2(KMT2B):c.5335C>T (p.Arg1779Ter) rs1568379151
NM_014727.3(KMT2B):c.1205del (p.Pro402fs)
NM_014727.3(KMT2B):c.3632G>A (p.Gly1211Glu) rs1599679995
NM_014727.3(KMT2B):c.3700G>A (p.Glu1234Lys) rs1599680351
NM_014727.3(KMT2B):c.4109_4110dup (p.Leu1371fs)
NM_014727.3(KMT2B):c.4847C>T (p.Ala1616Val) rs1599687853

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