ClinVar Miner

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

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Total variants: 16
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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
NM_016011.5(MECR):c.965-11A>G rs374970921 0.00021
NM_016011.4(MECR):c.772C>T (p.Arg258Trp) rs145192716 0.00006
NM_016011.5(MECR):c.830+2dup rs756421370 0.00006
NM_016011.5(MECR):c.695G>A (p.Gly232Glu) rs762913101 0.00002
NM_016011.5(MECR):c.854A>G (p.Tyr285Cys) rs759218713 0.00001
NC_000001.11:g.29203234del rs1574315873
NM_016011.4(MECR):c.-39G>C rs749435497
NM_016011.5(MECR):c.161C>T (p.Pro54Leu) rs1683215661
NM_016011.5(MECR):c.247_250del (p.Asn83fs) rs1057519287
NM_016011.5(MECR):c.406G>A (p.Gly136Arg)
NM_016011.5(MECR):c.583G>A (p.Gly195Arg)
NM_016011.5(MECR):c.855T>G (p.Tyr285Ter) rs1057519286
NM_016011.5(MECR):c.910G>T (p.Asp304Tyr) rs761771473

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