List of variants in gene MECP2 reported as likely pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser)	rs267608399
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp)	rs267608642
NM_001110792.2(MECP2):c.215G>A (p.Gly72Asp)	rs2148666907
NM_001110792.2(MECP2):c.368G>C (p.Arg123Thr)
NM_001110792.2(MECP2):c.406T>G (p.Leu136Val)	rs2148666355
NM_001110792.2(MECP2):c.418C>A (p.Gln140Lys)	rs267608469
NM_001110792.2(MECP2):c.441A>C (p.Lys147Asn)
NM_001110792.2(MECP2):c.445G>C (p.Glu149Gln)
NM_001110792.2(MECP2):c.490C>A (p.Pro164Thr)
NM_001110792.2(MECP2):c.506T>G (p.Phe169Cys)
NM_001110792.2(MECP2):c.509C>A (p.Thr170Lys)	rs28934906
NM_001110792.2(MECP2):c.509C>G (p.Thr170Arg)
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val)	rs61748417
NM_001110792.2(MECP2):c.536G>C (p.Arg179Pro)	rs2148663951
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)	rs61750249
NM_001110792.2(MECP2):c.957G>C (p.Lys319Asn)
NM_001110792.2(MECP2):c.962G>A (p.Arg321Gln)	rs2065935636
NM_004992.3(MECP2):c.27-8916_1212del

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