ClinVar Miner

List of variants reported as likely pathogenic for Optic atrophy; Childhood Onset Dystonias

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Total variants: 6
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HGVS dbSNP
NM_016011.4(MECR):c.772C>T (p.Arg258Trp) rs145192716
NM_016011.4(MECR):c.830+2dup rs756421370
NM_016011.5(MECR):c.247_250del (p.Asn83fs) rs1057519287
NM_016011.5(MECR):c.695G>A (p.Gly232Glu) rs762913101
NM_016011.5(MECR):c.854A>G (p.Tyr285Cys) rs759218713
NM_016011.5(MECR):c.855T>G (p.Tyr285Ter) rs1057519286

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