ClinVar Miner

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

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Gene type:
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Total variants: 6
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NM_004992.3(MECP2):c.1164A>C (p.Pro388=) rs797044732
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.397C>A (p.Arg133Ser) rs28934904
NM_004992.3(MECP2):c.451G>T (p.Asp151Tyr) rs1557137042
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444

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