List of variants in gene MECP2 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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: 21

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.*14G>A	rs199963992	0.00037
NM_001110792.2(MECP2):c.312A>G (p.Gly104=)	rs140191561	0.00035
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=)	rs781816931	0.00019
NM_001110792.2(MECP2):c.750G>A (p.Gly250=)	rs369813305	0.00004
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr)	rs782239416	0.00004
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser)	rs797045691	0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)	rs140258520	0.00003
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val)	rs375101073	0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)	rs193922678	0.00003
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu)	rs267608440	0.00003
NM_001110792.2(MECP2):c.852G>A (p.Pro284=)	rs587783746	0.00003
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser)	rs786204313	0.00002
NM_001110792.2(MECP2):c.1436C>G (p.Pro479Arg)	rs782042904	0.00001
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg)	rs267608492	0.00001
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg)	rs797045692
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup)	rs587783744
NM_001110792.2(MECP2):c.542A>G (p.Glu181Gly)	rs587783745
NM_001110792.2(MECP2):c.737C>A (p.Ala246Asp)	rs138211345
NM_001110792.2(MECP2):c.893A>G (p.Lys298Arg)	rs267608533
NM_001110792.2(MECP2):c.947A>G (p.Lys316Arg)	rs267608550
NM_001110792.2(MECP2):c.94G>C (p.Gly32Arg)	rs1557138023

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