ClinVar Miner

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

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_004992.3(MECP2):c.1072G>A (p.Ala358Thr) rs147017239
NM_004992.3(MECP2):c.1098_1100CCA[1] (p.His371_His372del) rs61752381
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1129_1198del (p.Lys377fs) rs1557135353
NM_004992.3(MECP2):c.1161C>T (p.Pro387=) rs61750246
NM_004992.3(MECP2):c.1162C>G (p.Pro388Ala) rs61753000
NM_004992.3(MECP2):c.1180G>A (p.Glu394Lys) rs63094662
NM_004992.3(MECP2):c.1206C>T (p.Pro402=) rs63586860
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1233C>T (p.Ser411=) rs3027928
NM_004992.3(MECP2):c.377+28A>G rs185036026
NM_004992.3(MECP2):c.378-17delT rs61753982
NM_004992.3(MECP2):c.378-20C>G rs368684221
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.608C>T (p.Thr203Met) rs61749720
NM_004992.3(MECP2):c.777C>T (p.Ala259=) rs1042870
NM_004992.3(MECP2):c.810A>G (p.Arg270=) rs782743949
NM_004992.3(MECP2):c.819G>T (p.Gly273=) rs61750245
NM_004992.3(MECP2):c.840C>T (p.Ala280=) rs61750251
NM_004992.3(MECP2):c.843C>T (p.Ala281=) rs61750252
NM_004992.3(MECP2):c.849C>G (p.Ala283=) rs61750253

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