ClinVar Miner

List of variants reported as benign for Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016011.5(MECR):c.597A>G (p.Ala199=)	rs1062924	0.85930
NM_016011.5(MECR):c.286T>C (p.Phe96Leu)	rs1128400	0.83145
NM_016011.5(MECR):c.176+19G>A	rs2640466	0.80531

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