ClinVar Miner

List of variants in gene MECP2 reported as pathogenic by Ambry Genetics

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Total variants: 14
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HGVS dbSNP
NM_001110792.1(MECP2):c.1200_1243del44 (p.Pro401Terfs) rs61752992
NM_001110792.1(MECP2):c.47_57dup (p.Arg20Alafs)
NM_001110792.1(MECP2):c.648dup (p.Glu217Argfs) rs1557136758
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter) rs61748396
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.55C>T (p.Gln19Ter) rs61754425
NM_004992.3(MECP2):c.611C>G (p.Ser204Ter) rs61749724
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.806delG (p.Gly269Alafs) rs61750241
NM_004992.3(MECP2):c.808C>T (p.Arg270Ter) rs61750240

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