ClinVar Miner

List of variants in gene MECP2 reported as uncertain significance for chromosomal disorder

Included ClinVar conditions (197):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
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.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001110792.2(MECP2):c.1112C>T (p.Ser371Phe)
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr) rs2148661028
NM_001110792.2(MECP2):c.542A>G (p.Glu181Gly) rs587783745
NM_001110792.2(MECP2):c.63-6C>T
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) rs1569548388

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