ClinVar Miner

List of variants studied for Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016011.5(MECR):c.965-11A>G rs374970921 0.00021
NM_016011.5(MECR):c.161C>T (p.Pro54Leu) rs1683215661
NM_016011.5(MECR):c.583G>A (p.Gly195Arg)

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