ClinVar Miner

List of variants in gene MECP2 reported as uncertain significance by Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children

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Total variants: 10
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HGVS dbSNP
NM_004992.3(MECP2):c.1060C>T (p.Arg354Cys) rs143876280
NM_004992.3(MECP2):c.1098_1100CCA[2] (p.His372del) rs61752381
NM_004992.3(MECP2):c.1148T>C (p.Leu383Pro) rs1060499622
NM_004992.3(MECP2):c.1155_1208del (p.Leu386_Pro403del) rs1557135259
NM_004992.3(MECP2):c.1156_1197del (p.Leu386_Pro399del) rs267608579
NM_004992.3(MECP2):c.1180_1215del (p.Glu394_Pro405del) rs782746707
NM_004992.3(MECP2):c.313A>C (p.Thr105Pro) rs1060499623
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.518C>G (p.Pro173Arg) rs267608492

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