ClinVar Miner

List of variants in gene MECP2 reported as pathogenic by Mendelics

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Total variants: 11
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HGVS dbSNP
NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs) rs1603307865
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs) rs267608446
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs) rs1603341328
NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly) rs727505391
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter) rs1603309480
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.785dup (p.Gly264fs) rs1603308963

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