List of variants studied for myoclonus-dystonia syndrome by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000795.4(DRD2):c.460G>A (p.Val154Ile)	rs104894220	0.00006
NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter)	rs121908492	0.00001
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter)	rs121908490	0.00001
NM_001282684.2(KCTD17):c.413G>A (p.Arg138His)	rs786205860
NM_003919.2(SGCE):c.464_662del
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)	rs121908489
NM_003919.3(SGCE):c.391-82_405del
NM_003919.3(SGCE):c.483del (p.Ala162fs)
NM_003919.3(SGCE):c.587T>G (p.Leu196Arg)	rs121908491
NM_003919.3(SGCE):c.619_620del (p.Arg207fs)	rs863223285
NM_003919.3(SGCE):c.663-6109_825+550del
NM_003919.3(SGCE):c.835_839del (p.Thr279fs)	rs863223283
NM_003919.3(SGCE):c.884dup (p.Leu295fs)	rs863223284
NM_003919.3(SGCE):c.974del (p.Ser325fs)	rs1584531843

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