ClinVar Miner

List of variants in gene MECP2 studied for See cases

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu) rs376324027 0.00005
GRCh38/hg38 Xq28(chrX:154022066-154044684)x1
GRCh38/hg38 Xq28(chrX:154022066-154065465)x1
GRCh38/hg38 Xq28(chrX:154024864-154029207)x1
GRCh38/hg38 Xq28(chrX:154030850-154034917)x1
NM_001110792.2(MECP2):c.1111_1214del (p.Ser371fs)
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.62+2_62+3del rs786205049
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468

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