ClinVar Miner

List of variants reported as pathogenic for Rett syndrome by Medical Molecular Genetics Department, National Research Center

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Total variants: 6
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HGVS dbSNP
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.648_649AG[1] (p.Glu217fs)
NM_001110792.2(MECP2):c.858_859TG[1] (p.Val287fs) rs1557136374
NM_004992.3(MECP2):c.1234_1337del (p.Val412fs) rs1557135039
NM_004992.3(MECP2):c.59del (p.Gly20fs)
NM_004992.3(MECP2):c.881_1172del (p.Arg294fs)

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