ClinVar Miner

List of variants studied for Rett syndrome by Center for Human Genetics, Inc

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Total variants: 12
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NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs) rs62931162
NM_001110792.2(MECP2):c.898G>A (p.Val300Met) rs782455664
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.756_759del (p.Arg253fs) rs267608523
NM_004992.3(MECP2):c.840del (p.Ala281fs) rs1557136332
NM_004992.3(MECP2):c.854del (p.Lys285fs) rs267608531

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