ClinVar Miner

List of variants studied for Rett syndrome by Mendelics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239 0.00030
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001110792.2(MECP2):c.*98dup rs267608341
NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs) rs1603307865
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs) rs267608446
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs) rs1603341328
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr) rs1603309620
NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly) rs727505391
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter) rs1603309480
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) rs61748427
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.62+5469A>T rs1557149865
NM_001110792.2(MECP2):c.62+5503del rs372915987
NM_001110792.2(MECP2):c.785dup (p.Gly264fs) rs1603308963

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