ClinVar Miner

List of variants in gene MECP2 reported as pathogenic by Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics

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Total variants: 16
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HGVS dbSNP
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_004992.3(MECP2):c.-99+2_-99+3del rs786205049
NM_004992.3(MECP2):c.1146_*452del (p.Leu382_Ter487delinsXaa) rs1557134481
NM_004992.3(MECP2):c.1157_1200del (p.Leu386fs) rs63749748
NM_004992.3(MECP2):c.1163_1283delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro388_Gly428delinsGlnTer) rs1557135110
NM_004992.3(MECP2):c.1164_1206del (p.Pro389fs) rs267608603
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.1A>T (p.Met1Leu) rs786205892
NM_004992.3(MECP2):c.390del (p.Ala131fs) rs786205895
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.468C>G (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.710dup (p.Gly238fs) rs61749743
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468

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