List of variants reported as likely pathogenic for Optic atrophy; Childhood Onset Dystonias by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
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
NM_016011.5(MECR):c.855T>G (p.Tyr285Ter)	rs1057519286	0.00001
NM_016011.5(MECR):c.247_250del (p.Asn83fs)	rs1057519287

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