ClinVar Miner

List of variants studied for Myoclonic dystonia 11 by 3billion, Medical Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003919.3(SGCE):c.1139T>G (p.Ile380Arg)	rs765193255
NM_003919.3(SGCE):c.298T>C (p.Trp100Arg)	rs2116959521
NM_003919.3(SGCE):c.443T>A (p.Ile148Asn)
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter)	rs398123812

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