ClinVar Miner

List of variants studied 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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