ClinVar Miner

List of variants in gene MECP2 reported as pathogenic by OMIM

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Total variants: 38
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HGVS dbSNP
MECP2, 1-BP DEL, 76C
MECP2, 1-BP DEL, 806G
MECP2, 11-BP DEL, EX1
MECP2, 240-BP DEL, NT1161
MECP2, 41-BP DEL, NT1157
MECP2, 41-BP DEL, NT1159
MECP2, 44-BP DEL, NT1152
MECP2, 44-BP DEL, NT1159
MECP2, 52-BP DEL
MECP2, DUP
MECP2, IVS2AS, A-G, -2
NM_001110792.1(MECP2):c.23_27dupCGCCG (p.Ser10Argfs) rs786205038
NM_001110792.1(MECP2):c.30delCinsGA (p.Ser10Argfs) rs786205040
NM_001110792.1(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.1(MECP2):c.802_815dup (p.Asp272Glufs) rs267608524
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.1154_1186del (p.Leu386_Ser396del)
NM_004992.3(MECP2):c.1180G>T (p.Glu394Ter) rs63094662
NM_004992.3(MECP2):c.1282G>A (p.Gly428Ser) rs61753971
NM_004992.3(MECP2):c.1363G>T (p.Glu455Ter) rs104894864
NM_004992.3(MECP2):c.167_168delCC (p.Pro56Argfs) rs267608434
NM_004992.3(MECP2):c.298C>G (p.Leu100Val) rs28935168
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.410A>G (p.Glu137Gly) rs61748392
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter) rs61748396
NM_004992.3(MECP2):c.454C>G (p.Pro152Ala) rs179363900
NM_004992.3(MECP2):c.464T>C (p.Phe155Ser) rs28934905
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.488_489delGG (p.Gly163Glufs) rs267608488
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.674C>T (p.Pro225Leu) rs61749715
NM_004992.3(MECP2):c.710delG (p.Gly237Valfs) rs61749743
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.808C>T (p.Arg270Ter) rs61750240
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_004992.3(MECP2):c.964C>T (p.Pro322Ser) rs61751449

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