ClinVar Miner

List of variants in gene MECP2 reported by Undiagnosed Diseases Network, NIH

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.63-73_1087del
NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs) rs1569548274

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