ClinVar Miner

List of variants studied for Rett syndrome by Integrated Genetics/Laboratory Corporation of America

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Total variants: 33
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HGVS dbSNP
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928
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.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) rs193922679
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_004992.3(MECP2):c.1072G>A (p.Ala358Thr) rs147017239
NM_004992.3(MECP2):c.1079C>A (p.Ser360Ter) rs61752372
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1161C>T (p.Pro387=) rs61750246
NM_004992.3(MECP2):c.1441G>A (p.Val481Met) rs193922678
NM_004992.3(MECP2):c.378-20C>G rs368684221
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.378-6C>G rs782482746
NM_004992.3(MECP2):c.650C>T (p.Pro217Leu) rs878853312
NM_004992.3(MECP2):c.678T>G (p.Phe226Leu) rs878853313
NM_004992.3(MECP2):c.710del (p.Gly237fs) rs61749743
NM_004992.3(MECP2):c.728_731del (p.Thr243fs) rs1569548428
NM_004992.3(MECP2):c.753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.819G>T (p.Gly273=) rs61750245
NM_004992.3(MECP2):c.898G>A (p.Val300Ile) rs61751370
NM_004992.3(MECP2):c.909C>G (p.Ile303Met) rs61751439

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