ClinVar Miner

List of variants reported as pathogenic for Syndromic X-linked intellectual disability Lubs type by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xq28(chrX:153174571-153609996)
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241

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