ClinVar Miner

List of variants studied for Myoclonic dystonia 11 by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003919.3(SGCE):c.1060C>T (p.Pro354Ser) rs983156830 0.00004
NM_003919.3(SGCE):c.856C>G (p.Gln286Glu) rs775468466 0.00001
NM_003919.3(SGCE):c.865_866insGCAGGAAGTGA (p.Ile289delinsSerArgLysTer) rs2116695697

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