ClinVar Miner

List of variants in gene MECP2 reported as likely pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.1087_1088insC (p.Lys363fs) rs1557135929
NM_004992.3(MECP2):c.1094_1138del (p.Glu365_Pro379del) rs1064792899
NM_004992.3(MECP2):c.1163_1197del (p.Pro388fs) rs267608589
NM_004992.3(MECP2):c.1164_1199delinsT (p.Pro389fs) rs1557135346
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.332G>A (p.Arg111Lys) rs1057518718
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.378-3C>T rs267608465
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) rs61748390
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_004992.3(MECP2):c.468C>A (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.569G>A (p.Arg190His) rs1557136818
NM_004992.3(MECP2):c.574A>T (p.Lys192Ter) rs193922679
NM_004992.3(MECP2):c.650C>T (p.Pro217Leu) rs878853312
NM_004992.3(MECP2):c.728_731del (p.Thr243fs) rs1569548428
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.840del (p.Ala281fs) rs1557136332
NM_004992.3(MECP2):c.854del (p.Lys285fs) rs267608531
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444

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