List of variants in gene MECP2 reported as uncertain significance for X-linked disease

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.414-61C>G	rs191076920	0.00056
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)	rs267608572	0.00022
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)	rs63390262	0.00010
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)	rs193922677	0.00009
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)	rs145790362	0.00005
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)	rs61753016	0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)	rs61750239	0.00004
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)	rs140258520	0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)	rs61751445	0.00003
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser)	rs786204313	0.00002
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu)	rs193922676	0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)	rs61748427	0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)	rs587783139	0.00002
NM_001110792.2(MECP2):c.1394G>A (p.Arg465Gln)	rs61753980	0.00001
NM_001110792.2(MECP2):c.413+24C>A	rs267608462	0.00001
NM_001110792.2(MECP2):c.1130A>G (p.Glu377Gly)
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr)	rs2148661028
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del)	rs1557134946
NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs)	rs786205036
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys)	rs786205046
NM_001110792.2(MECP2):c.515C>A (p.Thr172Asn)
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)	rs61748420
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser)	rs61748426
NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser)
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)	rs61749737
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr)	rs1209806388
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)	rs61750249
NM_001110792.2(MECP2):c.886A>G (p.Lys296Glu)	rs61750255
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met)	rs61751439
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444
NM_001110792.2(MECP2):c.991G>A (p.Val331Met)	rs1569548388
NM_004992.3:c.(?_-226)_(*1_?)dup

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