ClinVar Miner

List of variants in gene LOC130068854, MECP2 studied for atypical Rett syndrome

Included ClinVar conditions (12):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001110792.1(MECP2):c.(?_1)_(62_?)del
NM_001110792.1(MECP2):c.-46_-45delGC rs782107551
NM_001110792.2(MECP2):c.-27_-26delinsTT rs786205039
NM_001110792.2(MECP2):c.-31AG[2] rs587783128
NM_001110792.2(MECP2):c.-7_62del (p.Met1_Leu21del)
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.2(MECP2):c.23_27del (p.Ala8fs)
NM_001110792.2(MECP2):c.2T>C (p.Met1Thr) rs2066907057
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6CGC[9] (p.Ala6_Ala8dup) rs398123566
NM_004992.3(MECP2):c.(?_-226)_-99+?del

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