ClinVar Miner

List of variants reported as pathogenic for Rett syndrome by Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children

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Total variants: 13
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NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) rs267608520
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.1024_1025insAG (p.Pro342fs) rs1060499620
NM_004992.3(MECP2):c.1029del (p.Arg344fs) rs61751457
NM_004992.3(MECP2):c.1089_1129del (p.Lys364fs) rs1064792898
NM_004992.3(MECP2):c.1158_*261del (p.Pro387fs) rs1557134621
NM_004992.3(MECP2):c.1180_1205del (p.Glu394fs) rs267608333
NM_004992.3(MECP2):c.203C>G (p.Ser68Ter) rs267608438
NM_004992.3(MECP2):c.678del (p.Gln227fs) rs1060499621
NM_004992.3(MECP2):c.710dup (p.Gly238fs) rs61749743

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