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

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs)	rs267608339	0.00010
NM_001110792.2(MECP2):c.1037_1219del (p.Lys346_Glu406del)	rs1557135547
NM_001110792.2(MECP2):c.1188_1207del (p.Pro396_Pro397insTer)	rs1557135631
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs)	rs267608373
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs)	rs1557135251
NM_001110792.2(MECP2):c.1244del (p.Pro415fs)	rs781843758
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)	rs267608388
NM_001110792.2(MECP2):c.389G>C (p.Gly130Ala)	rs1557137672
NM_001110792.2(MECP2):c.414-3C>G	rs267608465
NM_001110792.2(MECP2):c.851del (p.Pro284fs)	rs1057518568
NM_001110792.2(MECP2):c.943A>G (p.Ile315Val)	rs1057522038
NM_001110792.2(MECP2):c.955A>G (p.Lys319Glu)	rs1131691480

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