ClinVar Miner

List of variants in gene MECP2 reported as uncertain significance for Mental retardation, X-linked, syndromic 13

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Total variants: 24
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HGVS dbSNP
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) rs786205046
NM_001110792.2(MECP2):c.6_8CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[9] (p.Ala6_Ala8dup) rs398123566
NM_004992.3(MECP2):c.-187_-186delAG rs587783128
NM_004992.3(MECP2):c.-187_-186delinsTT rs786205039
NM_004992.3(MECP2):c.-214_-213GC[4] rs782107551
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu) rs193922676
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1161_1400del (p.Pro388_Pro467del) rs1557134946
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1233_1243del (p.Ser411fs) rs786205036
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
NM_004992.3(MECP2):c.1358G>A (p.Arg453Gln) rs61753980
NM_004992.3(MECP2):c.377+24C>A rs267608462
NM_004992.3(MECP2):c.378-61C>G rs191076920
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.514C>T (p.Pro172Ser) rs61748426
NM_004992.3(MECP2):c.679C>G (p.Gln227Glu) rs61749737
NM_004992.3(MECP2):c.850A>G (p.Lys284Glu) rs61750255
NM_004992.3(MECP2):c.909C>G (p.Ile303Met) rs61751439
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_004992.3:c.(?_-226)_(*1_?)dup

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