ClinVar Miner

List of variants in gene MECP2 studied for History of neurodevelopmental disorder

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Total variants: 51
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HGVS dbSNP
NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.47_57dup (p.Arg20fs) rs786205042
NM_001110792.2(MECP2):c.6_8CGC[5] (p.Ala8del) rs398123566
NM_004992.3(MECP2):c.*9G>A rs144008995
NM_004992.3(MECP2):c.1035A>G (p.Lys345=) rs61752362
NM_004992.3(MECP2):c.1137C>T (p.Pro379=) rs61752980
NM_004992.3(MECP2):c.1150C>T (p.Pro384Ser)
NM_004992.3(MECP2):c.1157_1162del (p.Leu386_Pro387del) rs1569548334
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1194C>T (p.Asp398=) rs782741920
NM_004992.3(MECP2):c.1197C>T (p.Pro399=) rs61753012
NM_004992.3(MECP2):c.1205C>T (p.Pro402Leu) rs61753014
NM_004992.3(MECP2):c.1233C>T (p.Ser411=) rs3027928
NM_004992.3(MECP2):c.1309C>A (p.Gln437Lys) rs1569548273
NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr) rs61753973
NM_004992.3(MECP2):c.1335G>A (p.Thr445=) rs3027927
NM_004992.3(MECP2):c.1437G>A (p.Thr479=) rs587781033
NM_004992.3(MECP2):c.210C>T (p.Ser70=) rs61754439
NM_004992.3(MECP2):c.265C>T (p.Arg89Cys)
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.343C>T (p.Arg115Cys) rs267608388
NM_004992.3(MECP2):c.393C>G (p.Ala131=) rs61748385
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.45C>T (p.Asp15=)
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.527C>A (p.Pro176His) rs61749701
NM_004992.3(MECP2):c.55C>T (p.Gln19Ter) rs61754425
NM_004992.3(MECP2):c.582C>T (p.Ser194=) rs61749711
NM_004992.3(MECP2):c.587C>G (p.Thr196Ser) rs61749713
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.608C>T (p.Thr203Met) rs61749720
NM_004992.3(MECP2):c.683C>G (p.Thr228Ser) rs61749738
NM_004992.3(MECP2):c.687G>T (p.Ser229=) rs782461567
NM_004992.3(MECP2):c.691G>A (p.Gly231Arg) rs587783139
NM_004992.3(MECP2):c.749G>A (p.Arg250His) rs61750227
NM_004992.3(MECP2):c.750C>T (p.Arg250=) rs61748424
NM_004992.3(MECP2):c.753C>T (p.Pro251=) rs63582063
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.830C>T (p.Ala277Val) rs1569548411
NM_004992.3(MECP2):c.834C>T (p.Ala278=) rs61750248
NM_004992.3(MECP2):c.843C>T (p.Ala281=) rs61750252
NM_004992.3(MECP2):c.849C>G (p.Ala283=) rs61750253
NM_004992.3(MECP2):c.862G>A (p.Val288Met) rs782455664
NM_004992.3(MECP2):c.897C>T (p.Thr299=) rs61748423
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_004992.3(MECP2):c.942C>T (p.Ile314=) rs61751446
NM_004992.3(MECP2):c.996C>T (p.Ser332=) rs148744894

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