ClinVar Miner

List of variants studied for Rett syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 21
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xq28(chrX:153283692-153298113)x1
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1173del (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr) rs2065906320
NM_001110792.2(MECP2):c.1351_1359dup (p.Ala451_Ala453dup) rs2065905269
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) rs61753979
NM_001110792.2(MECP2):c.148_149insGCCAAAG (p.Glu50fs) rs2065989620
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.434G>C (p.Arg145Pro) rs61748389
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.808_1334del (p.Glu270fs) rs2148658938
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468

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