ClinVar Miner

List of variants in gene MECP2 reported by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

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Total variants: 19
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HGVS dbSNP
NM_001110792.2(MECP2):c.6_8CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_004992.3(MECP2):c.*9G>T rs144008995
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) rs61753975
NM_004992.3(MECP2):c.1339G>A (p.Ala447Thr) rs267608626
NM_004992.3(MECP2):c.208T>C (p.Ser70Pro) rs1557137884
NM_004992.3(MECP2):c.239C>G (p.Ser80Cys) rs1332969540
NM_004992.3(MECP2):c.283_286del (p.Tyr95fs) rs1557137776
NM_004992.3(MECP2):c.378-17del rs61753982
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.527C>A (p.Pro176His) rs61749701
NM_004992.3(MECP2):c.748dup (p.Arg250fs) rs61749752
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.901C>T (p.Leu301Phe) rs1557136251
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_004992.3(MECP2):c.[1155_1200del;987_988del]

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