ClinVar Miner

List of variants in gene MECP2 reported as likely pathogenic for not provided

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs) rs267608339 0.00010
NM_001110792.2(MECP2):c.1037_1219del (p.Lys346_Glu406del) rs1557135547
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001110792.2(MECP2):c.1171_1199del (p.Pro391fs)
NM_001110792.2(MECP2):c.1176dup (p.Pro393fs) rs2065924675
NM_001110792.2(MECP2):c.1188_1207del (p.Pro396_Pro397insTer) rs1557135631
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs) rs267608373
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) rs1557135251
NM_001110792.2(MECP2):c.1209_1236del (p.Glu404fs) rs2065913161
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs) rs267608612
NM_001110792.2(MECP2):c.1244del (p.Pro415fs) rs781843758
NM_001110792.2(MECP2):c.1250_1263del (p.Pro417fs) rs1557135208
NM_001110792.2(MECP2):c.1282G>T (p.Glu428Ter) rs1057519216
NM_001110792.2(MECP2):c.1486_*24del (p.Arg496_Ter499del) rs1557134792
NM_001110792.2(MECP2):c.337C>A (p.Pro113Thr) rs61754452
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) rs61754457
NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu) rs61754457
NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys) rs1057518718
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.389G>C (p.Gly130Ala) rs1557137672
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.422G>A (p.Gly141Glu) rs61748384
NM_001110792.2(MECP2):c.433C>A (p.Arg145Ser) rs28934904
NM_001110792.2(MECP2):c.440A>C (p.Lys147Thr)
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001110792.2(MECP2):c.488A>T (p.Asp163Val)
NM_001110792.2(MECP2):c.523G>T (p.Gly175Trp) rs1557136974
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.616_1227del (p.Ser206_Glu409del) rs2148659968
NM_001110792.2(MECP2):c.62+1G>C rs786205048
NM_001110792.2(MECP2):c.814_829del (p.Asp272fs)
NM_001110792.2(MECP2):c.849_850del (p.Lys283fs)
NM_001110792.2(MECP2):c.851del (p.Pro284fs) rs1057518568
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) rs61751373
NM_001110792.2(MECP2):c.943A>G (p.Ile315Val) rs1057522038
NM_001110792.2(MECP2):c.955A>G (p.Lys319Glu) rs1131691480
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444

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