ClinVar Miner

List of variants in gene MECP2 reported by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 12
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HGVS dbSNP
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.6_8CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_004992.3(MECP2):c.377+1G>T rs267608463
NM_004992.4(MECP2):c.1162_1170delinsACCAGCCCCC (p.Pro388fs)
NM_004992.4(MECP2):c.200G>T (p.Gly67Val)

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