List of variants reported as pathogenic for Rett syndrome by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs)	rs1060499620
NM_001110792.2(MECP2):c.1065del (p.Arg356fs)	rs61751457
NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs)	rs1064792898
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	rs267608327
NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs)	rs1557134621
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs)	rs267608333
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter)	rs267608438
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	rs61748421
NM_001110792.2(MECP2):c.714del (p.Gln239fs)	rs1060499621
NM_001110792.2(MECP2):c.746dup (p.Gly250fs)	rs61749743
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_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	rs28935468

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