List of variants reported as uncertain significance for Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_016011.5(MECR):c.965-11A>G	rs374970921	0.00021
NM_016011.4(MECR):c.-39G>C	rs749435497
NM_016011.5(MECR):c.161C>T (p.Pro54Leu)	rs1683215661
NM_016011.5(MECR):c.406G>A (p.Gly136Arg)
NM_016011.5(MECR):c.583G>A (p.Gly195Arg)

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