ClinVar Miner

List of variants reported as not provided by RettBASE

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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.413+266T>C rs2075596 0.84600
NM_001323289.2(CDKL5):c.2376+118T>A rs3752484 0.44413
NM_001110792.2(MECP2):c.414-109A>G rs3850326 0.04029
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_001323289.2(CDKL5):c.2046+79G>A rs147819758 0.02285
NM_001110792.2(MECP2):c.414-74C>T rs2071569 0.01484
NM_001110792.2(MECP2):c.413+22C>G rs2075597 0.00778
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_001110792.2(MECP2):c.413+28A>G rs185036026 0.00301
NM_001110792.2(MECP2):c.413+95G>A rs267608460 0.00223
NM_001323289.2(CDKL5):c.283-43G>A rs267608448 0.00061
NM_001110792.2(MECP2):c.414-61C>G rs191076920 0.00056
NM_001323289.2(CDKL5):c.463+22T>C rs267608478 0.00014
NM_001323289.2(CDKL5):c.2152+48C>T rs267608652 0.00006
NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp) rs267608336 0.00005
NM_001323289.2(CDKL5):c.2377-31T>C rs267608658 0.00005
NM_001323289.2(CDKL5):c.978-23T>C rs267608555 0.00005
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001110792.2(MECP2):c.413+18C>G rs267608461 0.00002
NM_001110792.2(MECP2):c.413+24C>A rs267608462 0.00001
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) rs61748386 0.00001
NM_001110792.2(MECP2):c.844C>G (p.Arg282Gly) rs61750240 0.00001
NM_001323289.2(CDKL5):c.554+11G>A rs267608498 0.00001
NM_001323289.2(CDKL5):c.99+29T>G rs267608422 0.00001
NM_000330.4(RS1):c.184+3118C>G rs139155110
NM_000330.4(RS1):c.184+3199G>C rs36022183
NM_001110792.2(MECP2):c.*796_*822del rs267608375
NM_001110792.2(MECP2):c.1001_1006del (p.Pro334_Leu335del) rs61751452
NM_001110792.2(MECP2):c.1025AGA[1] (p.Lys343del) rs61751456
NM_001110792.2(MECP2):c.1040_1073del (p.Gly347fs) rs267608376
NM_001110792.2(MECP2):c.1050C>T (p.Thr350=) rs267608400
NM_001110792.2(MECP2):c.1065del (p.Arg356fs) rs61751457
NM_001110792.2(MECP2):c.1065dup (p.Arg356fs) rs61751457
NM_001110792.2(MECP2):c.1079_1092del (p.Glu360fs) rs267608380
NM_001110792.2(MECP2):c.1087_1090del (p.Pro363fs) rs267608377
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del) rs267608384
NM_001110792.2(MECP2):c.1095_1108del (p.Arg366fs) rs267608378
NM_001110792.2(MECP2):c.1097_1110del (p.Arg366fs) rs267608381
NM_001110792.2(MECP2):c.1124_1151del (p.Lys375fs) rs267608385
NM_001110792.2(MECP2):c.1140C>T (p.His380=) rs61752382
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del) rs267608371
NM_001110792.2(MECP2):c.1161_1173del (p.Pro388fs) rs267608340
NM_001110792.2(MECP2):c.1165_1169delinsGAGT (p.Lys389fs) rs267608379
NM_001110792.2(MECP2):c.1168_1195del (p.Ala390fs) rs267608348
NM_001110792.2(MECP2):c.1172_1178del (p.Pro391fs) rs267608389
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001110792.2(MECP2):c.1184_1213del (p.Leu395_Glu404del) rs267608350
NM_001110792.2(MECP2):c.1191_1208del (p.Leu398_Pro403del) rs267608392
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs) rs267608373
NM_001110792.2(MECP2):c.1197_1199del (p.Pro403del) rs267608339
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del) rs267608332
NM_001110792.2(MECP2):c.1197_1205del (p.Pro401_Pro403del) rs267608401
NM_001110792.2(MECP2):c.1199_1209del (p.Pro400fs) rs267608334
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1203_1212del (p.Pro403fs) rs267608349
NM_001110792.2(MECP2):c.1209_1224del (p.Glu404fs) rs267608369
NM_001110792.2(MECP2):c.1212_1229del (p.Glu404_Glu409del) rs267608335
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu) rs267608402
NM_001110792.2(MECP2):c.1214_1221del (p.Pro405fs) rs267608383
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs) rs267608333
NM_001110792.2(MECP2):c.1217_1227del (p.Glu406fs) rs267608403
NM_001110792.2(MECP2):c.1221_1227del (p.Ser407fs) rs63749018
NM_001110792.2(MECP2):c.1225_1232del (p.Glu409fs) rs267608338
NM_001110792.2(MECP2):c.1225_1267inv (p.Glu409_Ser423delinsCysCysSerSerProGlyAlaGlnGlyGlyTrpTrpGlyProArg)
NM_001110792.2(MECP2):c.1233_1273inv (p.Thr412_Cys425delinsAspAlaAlaAlaGlnValLeuGlyLeuArgGlyAlaGlyGly)
NM_001110792.2(MECP2):c.1268_1272del (p.Ser423fs) rs267608351
NM_001110792.2(MECP2):c.1268_1276del (p.Ser423_Cys425del) rs63749027
NM_001110792.2(MECP2):c.1274_1302del (p.Cys425fs) rs267608374
NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1]) rs267608404
NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter) rs104894864
NM_001110792.2(MECP2):c.1484_*29del (p.Glu495fs) rs267608393
NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg) rs267608337
NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu) rs267608399
NM_001110792.2(MECP2):c.312_313insG (p.Pro105fs) rs267608405
NM_001110792.2(MECP2):c.370A>T (p.Lys124Ter) rs267608398
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.413+1G>A rs267608463
NM_001110792.2(MECP2):c.413+1G>T rs267608463
NM_001110792.2(MECP2):c.413+2T>G rs267608458
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.414-14G>A rs267608467
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.414-241C>T rs3027931
NM_001110792.2(MECP2):c.414-2A>C rs267608464
NM_001110792.2(MECP2):c.414-2A>G rs267608464
NM_001110792.2(MECP2):c.414-2A>T rs267608464
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.414-3_419del rs267608466
NM_001110792.2(MECP2):c.414-74C>G rs2071569
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys) rs28934905
NM_001110792.2(MECP2):c.504C>T (p.Asp168=) rs61748408
NM_001110792.2(MECP2):c.564C>G (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.63-2A>G rs267608412
NM_001110792.2(MECP2):c.63-55G>A rs267608414
NM_001110792.2(MECP2):c.63-6C>G rs267608411
NM_001110792.2(MECP2):c.63-8C>G rs267608410
NM_001110792.2(MECP2):c.63-9A>G rs267608413
NM_001110792.2(MECP2):c.653G>A (p.Gly218Asp) rs63485860
NM_001110792.2(MECP2):c.677_689del (p.Glu226fs) rs267608386
NM_001110792.2(MECP2):c.746G>T (p.Gly249Val) rs62846063
NM_001110792.2(MECP2):c.786C>A (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.953G>T (p.Arg318Leu) rs61751443
NM_001323289.2(CDKL5):c.100-2A>G rs267608423
NM_001323289.2(CDKL5):c.145+2T>C rs267608430
NM_001323289.2(CDKL5):c.2047-1G>A rs267608650
NM_001323289.2(CDKL5):c.2376+1G>A rs267608656
NM_001323289.2(CDKL5):c.2376+1G>C rs267608656
NM_001323289.2(CDKL5):c.2376+5G>A rs267608657
NM_001323289.2(CDKL5):c.283-99C>A rs4825261
NM_001323289.2(CDKL5):c.403+49_403+53del rs267608473
NM_001323289.2(CDKL5):c.404-1G>T rs267608474
NM_001323289.2(CDKL5):c.463+1G>A rs267608479
NM_001323289.2(CDKL5):c.464-2A>G rs267608480
NM_001323289.2(CDKL5):c.464-40_464-37del rs267608481
NM_001323289.2(CDKL5):c.64+2del rs267608419
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_001323289.2(CDKL5):c.978-2A>G rs267608553
NM_001323289.2(CDKL5):c.978-49_978-41del rs267608554
NM_001323289.2(CDKL5):c.99+1G>T rs267608421
NM_003159.2(CDKL5):c.145+4_145+5AT(11_13)
NM_003159.2(CDKL5):c.65dupG rs267608420
NM_004992.4(MECP2):c.26+2T>A rs267608409

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