ClinVar Miner

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

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Gene type:
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Total variants: 15
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NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
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.1157_1197del (p.Leu386fs) rs267608327
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.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.678del (p.Gln227fs) rs1060499621
NM_004992.3(MECP2):c.710dup (p.Gly238fs) rs61749743
NM_004992.3(MECP2):c.736_743delinsGTG (p.Met246fs) rs267608520
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.765_1158del (p.Lys256fs) rs1557135734

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