ClinVar Miner

List of variants in gene MECP2 reported as pathogenic for Angelman syndrome

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Total variants: 7
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HGVS dbSNP
NM_004992.3(MECP2):c.1157_1200del (p.Leu386fs) rs63749748
NM_004992.3(MECP2):c.1159_1210del (p.Pro387fs) rs1557135251
NM_004992.3(MECP2):c.167_168del (p.Pro56fs) rs267608434
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter) rs61748396
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468

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