ClinVar Miner

List of variants in gene MECP2 reported as likely pathogenic for severe neonatal-onset encephalopathy with microcephaly

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.1386C>G (p.Tyr462Ter) rs1557134999
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser) rs267608399
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp) rs267608642
NM_001110792.2(MECP2):c.215G>A (p.Gly72Asp) rs2148666907
NM_001110792.2(MECP2):c.368G>C (p.Arg123Thr)
NM_001110792.2(MECP2):c.406T>G (p.Leu136Val) rs2148666355
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.418C>A (p.Gln140Lys) rs267608469
NM_001110792.2(MECP2):c.441A>C (p.Lys147Asn)
NM_001110792.2(MECP2):c.445G>C (p.Glu149Gln)
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
NM_001110792.2(MECP2):c.490C>A (p.Pro164Thr)
NM_001110792.2(MECP2):c.506T>G (p.Phe169Cys)
NM_001110792.2(MECP2):c.509C>A (p.Thr170Lys) rs28934906
NM_001110792.2(MECP2):c.509C>G (p.Thr170Arg)
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) rs61748417
NM_001110792.2(MECP2):c.536G>C (p.Arg179Pro) rs2148663951
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) rs61749715
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001110792.2(MECP2):c.934_935dup (p.Leu313fs)
NM_001110792.2(MECP2):c.957G>C (p.Lys319Asn)
NM_001110792.2(MECP2):c.962G>A (p.Arg321Gln) rs2065935636
NM_001110792.2(MECP2):c.[1046_1072del;1123AAG[1]1152_1282del]
NM_004992.3(MECP2):c.27-8916_1212del

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