ClinVar Miner

List of variants in gene MECP2 reported as likely pathogenic by GeneDx

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Total variants: 14
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HGVS dbSNP
NM_004992.3(MECP2):c.1001_1183del (p.Lys334_Glu394del) rs1557135547
NM_004992.3(MECP2):c.1152_1171del (p.Pro384_Pro385insTer) rs1557135631
NM_004992.3(MECP2):c.1155_1200del (p.Leu386fs) rs267608329
NM_004992.3(MECP2):c.1159_1174del (p.Pro387fs) rs267608373
NM_004992.3(MECP2):c.1163dup (p.Pro389fs) rs267608339
NM_004992.3(MECP2):c.20G>A (p.Gly7Glu) rs1057517905
NM_004992.3(MECP2):c.253C>T (p.Arg85Cys) rs1064797047
NM_004992.3(MECP2):c.343C>T (p.Arg115Cys) rs267608388
NM_004992.3(MECP2):c.353G>C (p.Gly118Ala) rs1557137672
NM_004992.3(MECP2):c.376A>G (p.Asn126Asp) rs1064796513
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.815del (p.Pro272fs) rs1057518568
NM_004992.3(MECP2):c.907A>G (p.Ile303Val) rs1057522038
NM_004992.3(MECP2):c.919A>G (p.Lys307Glu) rs1131691480

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