ClinVar Miner

List of variants reported as pathogenic for Myoclonic dystonia 11 by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter)	rs1554355416
NM_003919.3(SGCE):c.723_724dup (p.Pro242fs)	rs2116723835
NM_003919.3(SGCE):c.793C>T (p.Gln265Ter)	rs1584546131

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