List of variants in gene MECP2 reported as likely pathogenic for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.348G>T (p.Trp116Cys)	rs1557137745
NM_001110792.2(MECP2):c.414-3C>G	rs267608465
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro)	rs61748383
NM_001110792.2(MECP2):c.433C>A (p.Arg145Ser)	rs28934904
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu)	rs61748391
NM_001110792.2(MECP2):c.787_889del (p.Pro263fs)
NM_001110792.2(MECP2):c.941_1168delinsGTACTTCTTGATGGGGC (p.Pro314_Ala390delinsArgThrSerTer)
NM_001110792.2(MECP2):c.953G>C (p.Arg318Pro)	rs61751443
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444

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