ClinVar Miner

Variants in gene MECP2 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 33
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) rs1064797047 0.00001
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) rs61751449
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001110792.2(MECP2):c.1079_1209delinsTG (p.Glu360_Pro403delinsVal) rs1557135603
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys) rs267608642
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr) rs61754448
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly) rs28934907
NM_001110792.2(MECP2):c.359T>A (p.Leu120His) rs61754458
NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly) rs61754459
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) rs61748383
NM_001110792.2(MECP2):c.422G>T (p.Gly141Val) rs61748384
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) rs267608470
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly) rs28934904
NM_001110792.2(MECP2):c.436T>C (p.Ser146Pro) rs267608471
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile) rs61748406
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys) rs28934905
NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala) rs61748407
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) rs61748407
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) rs61748410
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp) rs61748416
NM_001110792.2(MECP2):c.518G>A (p.Gly173Glu) rs61748417
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) rs61748417
NM_001110792.2(MECP2):c.940C>A (p.Pro314Thr) rs61751373
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) rs61751373
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) rs61751439
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) rs61751440
NM_001110792.2(MECP2):c.949A>G (p.Lys317Glu) rs267608551
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) rs61751441
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444

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