List of variants in gene MECP2 reported as likely pathogenic for X-linked syndromic intellectual disability

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu)	rs61751450
NM_001110792.2(MECP2):c.1152_1155del (p.His384fs)
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)	rs1557135353
NM_001110792.2(MECP2):c.1173del (p.Val392fs)	rs1557135793
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs)	rs2065902096
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser)	rs267608399
NM_001110792.2(MECP2):c.414-3C>G	rs267608465
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)	rs61751370
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444

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