ClinVar Miner

List of variants reported as pathogenic for Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_016011.4(MECR):c.772C>T (p.Arg258Trp)	rs145192716	0.00006
NC_000001.11:g.29203234del	rs1574315873

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