ClinVar Miner

List of variants in gene MECP2 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 17
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HGVS dbSNP
NM_004992.3(MECP2):c.1162_1179del (p.Pro388_Pro393del) rs267608406
NM_004992.3(MECP2):c.1164A>C (p.Pro388=) rs797044732
NM_004992.3(MECP2):c.1188C>T (p.Ser396=) rs781816931
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1207C>G (p.Pro403Ala) rs782495086
NM_004992.3(MECP2):c.1212G>A (p.Glu404=) rs782585521
NM_004992.3(MECP2):c.1214_1227del (p.Pro405fs) rs1557135208
NM_004992.3(MECP2):c.1246G>T (p.Glu416Ter) rs1057519216
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
NM_004992.3(MECP2):c.387A>G (p.Gly129=) rs1557137159
NM_004992.3(MECP2):c.393C>G (p.Ala131=) rs61748385
NM_004992.3(MECP2):c.397C>A (p.Arg133Ser) rs28934904
NM_004992.3(MECP2):c.451G>T (p.Asp151Tyr) rs1557137042
NM_004992.3(MECP2):c.517C>G (p.Pro173Ala) rs61748427
NM_004992.3(MECP2):c.533C>G (p.Ser178Cys) rs782314807
NM_004992.3(MECP2):c.840C>T (p.Ala280=) rs61750251
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444

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