ClinVar Miner

List of variants in gene MECP2 reported as uncertain significance for MECP2-related condition

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.551C>T (p.Pro184Leu) rs267608491 0.00008
NM_001110792.2(MECP2):c.1177C>T (p.Pro393Ser) rs61752981 0.00004
NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr) rs781968415 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys) rs782314807 0.00003
NM_001110792.2(MECP2):c.242G>T (p.Gly81Val) rs1557137890 0.00002
NM_001110792.2(MECP2):c.631C>T (p.Pro211Ser) rs373329231 0.00001
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1240_1241insT (p.Pro414fs) rs2148659573
NM_001110792.2(MECP2):c.1297G>C (p.Gly433Arg)
NM_001110792.2(MECP2):c.346T>G (p.Trp116Gly)
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227
NM_001110792.2(MECP2):c.811G>T (p.Ala271Ser)
NM_001110792.2(MECP2):c.869C>T (p.Ala290Val) rs781971438

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