List of variants reported for Dystonia 28, childhood-onset by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_014727.3(KMT2B):c.1603C>T (p.Arg535Cys)
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter)	rs1057519279
NM_014727.3(KMT2B):c.3335-9_3363del	rs1969359289
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.424C>T (p.Arg142Ter)	rs748888652
NM_014727.3(KMT2B):c.4549C>T (p.Arg1517Ter)	rs1459799356
NM_014727.3(KMT2B):c.4847C>T (p.Ala1616Val)	rs1599687853
NM_014727.3(KMT2B):c.521dup (p.Thr176fs)	rs763183959
NM_014727.3(KMT2B):c.6406del (p.Leu2136fs)	rs1057519278
NM_014727.3(KMT2B):c.7012del (p.Asp2338fs)
NM_014727.3(KMT2B):c.7050-2A>G	rs1057519280
NM_014727.3(KMT2B):c.7693C>G (p.Arg2565Gly)

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