ClinVar Miner

List of variants in gene MECP2 reported as pathogenic for Inborn genetic diseases

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs) rs267608339 0.00010
NM_001110792.2(MECP2):c.1095_1226delinsACTCTGAGTGGTGGTGATGGTGGT (p.Arg366_Glu409delinsLeuTer)
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1143_1192delinsCCCCCG (p.His382fs)
NM_001110792.2(MECP2):c.1165_1264del (p.Lys389fs)
NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs) rs267608576
NM_001110792.2(MECP2):c.1189_*1302delinsTCCCG (p.Pro397fs)
NM_001110792.2(MECP2):c.1197_1252del (p.Pro400fs)
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs) rs267608600
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1203_1231del (p.Pro402fs)
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer) rs2148659508
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.47_57dup (p.Arg20fs) rs786205042
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) rs61748407
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) rs61749724
NM_001110792.2(MECP2):c.648dup (p.Glu217fs) rs1557136758
NM_001110792.2(MECP2):c.744_751del (p.Gly249fs) rs2065947222
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.892_895del (p.Lys298fs) rs61750256
NM_001110792.2(MECP2):c.908dup (p.Ser304fs)
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.91C>T (p.Gln31Ter) rs61754425
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468

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