ClinVar Miner

List of variants in gene DCX reported as pathogenic

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Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_001195553.2(DCX):c.587G>A (p.Arg196His) rs56030372 0.00001
GRCh38/hg38 Xq23(chrX:111318320-111348178)x3
NC_000023.10:g.(?_110576259)_(110576401_?)del
NM_001195553.2(DCX):c.-22-345_326del
NM_001195553.2(DCX):c.1045-2A>G rs587783518
NM_001195553.2(DCX):c.115C>T (p.Arg39Ter) rs587783519
NM_001195553.2(DCX):c.124del (p.Thr42fs) rs587783520
NM_001195553.2(DCX):c.128T>C (p.Leu43Ser) rs587783521
NM_001195553.2(DCX):c.130C>T (p.Gln44Ter) rs587783522
NM_001195553.2(DCX):c.139A>C (p.Ser47Arg) rs104894783
NM_001195553.2(DCX):c.150G>T (p.Lys50Asn) rs587783523
NM_001195553.2(DCX):c.151_154del (p.Lys51fs) rs587783524
NM_001195553.2(DCX):c.176G>A (p.Arg59His) rs122457137
NM_001195553.2(DCX):c.176G>T (p.Arg59Leu) rs122457137
NM_001195553.2(DCX):c.182G>A (p.Gly61Glu) rs587783527
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) rs104894779
NM_001195553.2(DCX):c.190T>G (p.Tyr64Asp)
NM_001195553.2(DCX):c.192C>G (p.Tyr64Ter) rs764964209
NM_001195553.2(DCX):c.210C>A (p.Tyr70Ter) rs587783532
NM_001195553.2(DCX):c.211G>A (p.Ala71Thr) rs104894786
NM_001195553.2(DCX):c.211G>T (p.Ala71Ser) rs104894786
NM_001195553.2(DCX):c.218C>T (p.Ser73Phe) rs587783533
NM_001195553.2(DCX):c.226C>G (p.Arg76Gly) rs587783534
NM_001195553.2(DCX):c.226C>T (p.Arg76Cys) rs587783534
NM_001195553.2(DCX):c.232C>T (p.Arg78Cys) rs587783535
NM_001195553.2(DCX):c.233G>A (p.Arg78His) rs104894784
NM_001195553.2(DCX):c.233G>T (p.Arg78Leu) rs104894784
NM_001195553.2(DCX):c.23_24del (p.His7_Phe8insTer) rs797045510
NM_001195553.2(DCX):c.240dup (p.Asp81Ter) rs2147276330
NM_001195553.2(DCX):c.265C>G (p.Arg89Gly) rs104894785
NM_001195553.2(DCX):c.265C>T (p.Arg89Ter) rs104894785
NM_001195553.2(DCX):c.266G>A (p.Arg89Gln) rs61729440
NM_001195553.2(DCX):c.266G>C (p.Arg89Pro) rs61729440
NM_001195553.2(DCX):c.272T>C (p.Leu91Pro) rs587783536
NM_001195553.2(DCX):c.274_277del (p.Ser92fs) rs1556405065
NM_001195553.2(DCX):c.280A>G (p.Asn94Asp) rs797045512
NM_001195553.2(DCX):c.290T>G (p.Leu97Arg) rs587783537
NM_001195553.2(DCX):c.299G>T (p.Gly100Val) rs587783538
NM_001195553.2(DCX):c.2T>C (p.Met1Thr) rs587783539
NM_001195553.2(DCX):c.301G>A (p.Val101Met) rs587783540
NM_001195553.2(DCX):c.304C>A (p.Arg102Ser) rs587783541
NM_001195553.2(DCX):c.304C>G (p.Arg102Gly) rs587783541
NM_001195553.2(DCX):c.304C>T (p.Arg102Cys) rs587783541
NM_001195553.2(DCX):c.305G>A (p.Arg102His) rs267606317
NM_001195553.2(DCX):c.30_31del (p.Arg11_Asp12insTer) rs1085307851
NM_001195553.2(DCX):c.310A>T (p.Ile104Phe) rs201870761
NM_001195553.2(DCX):c.339dup (p.Gly114fs) rs797045514
NM_001195553.2(DCX):c.34_35dup (p.Asp12fs) rs1569498597
NM_001195553.2(DCX):c.355_356del (p.Leu119fs) rs1556404991
NM_001195553.2(DCX):c.364+1del rs1064793735
NM_001195553.2(DCX):c.364G>A (p.Gly122Arg) rs587783544
NM_001195553.2(DCX):c.365-1G>T rs2147263424
NM_001195553.2(DCX):c.373T>C (p.Tyr125His) rs104894781
NM_001195553.2(DCX):c.37_38del (p.Lys13fs) rs2147276732
NM_001195553.2(DCX):c.386C>T (p.Ser129Leu) rs587783548
NM_001195553.2(DCX):c.391_393del (p.Asn131del) rs587783549
NM_001195553.2(DCX):c.409G>T (p.Glu137Ter) rs587783550
NM_001195553.2(DCX):c.412T>C (p.Tyr138His) rs587783551
NM_001195553.2(DCX):c.413A>G (p.Tyr138Cys) rs587783552
NM_001195553.2(DCX):c.414_415insG (p.Thr139fs) rs2147263289
NM_001195553.2(DCX):c.451A>G (p.Lys151Glu) rs587783553
NM_001195553.2(DCX):c.451A>T (p.Lys151Ter) rs587783553
NM_001195553.2(DCX):c.467dup (p.Met156fs) rs886041736
NM_001195553.2(DCX):c.478C>T (p.Gln160Ter) rs587783554
NM_001195553.2(DCX):c.478_479del (p.Gln160fs) rs587783555
NM_001195553.2(DCX):c.478dup (p.Gln160fs) rs2147263208
NM_001195553.2(DCX):c.479_482dup (p.Leu162fs) rs2147263186
NM_001195553.2(DCX):c.494_504del (p.Ser165fs) rs587783556
NM_001195553.2(DCX):c.505C>T (p.Gln169Ter) rs1064794223
NM_001195553.2(DCX):c.520A>G (p.Lys174Glu) rs587783557
NM_001195553.2(DCX):c.528del (p.Phe176fs) rs797045515
NM_001195553.2(DCX):c.532C>G (p.Arg178Gly) rs587783558
NM_001195553.2(DCX):c.532C>T (p.Arg178Cys) rs587783558
NM_001195553.2(DCX):c.533G>T (p.Arg178Leu) rs587783559
NM_001195553.2(DCX):c.538A>G (p.Lys180Glu) rs587783560
NM_001195553.2(DCX):c.540G>T (p.Lys180Asn) rs1927758267
NM_001195553.2(DCX):c.544G>T (p.Val182Phe) rs1556401951
NM_001195553.2(DCX):c.556C>T (p.Arg186Cys) rs587783562
NM_001195553.2(DCX):c.557G>A (p.Arg186His) rs587783563
NM_001195553.2(DCX):c.557G>T (p.Arg186Leu) rs587783563
NM_001195553.2(DCX):c.55C>T (p.Arg19Ter) rs587783564
NM_001195553.2(DCX):c.572C>G (p.Pro191Arg) rs587783566
NM_001195553.2(DCX):c.574C>T (p.Arg192Trp) rs104894780
NM_001195553.2(DCX):c.578_585del (p.Lys193fs) rs587783567
NM_001195553.2(DCX):c.586C>A (p.Arg196Ser) rs587783568
NM_001195553.2(DCX):c.586C>G (p.Arg196Gly) rs587783568
NM_001195553.2(DCX):c.586C>T (p.Arg196Cys) rs587783568
NM_001195553.2(DCX):c.602AGA[1] (p.Lys202del)
NM_001195553.2(DCX):c.607A>G (p.Thr203Ala) rs587783570
NM_001195553.2(DCX):c.608C>A (p.Thr203Lys) rs104894782
NM_001195553.2(DCX):c.608C>G (p.Thr203Arg) rs104894782
NM_001195553.2(DCX):c.611C>A (p.Ala204Asp) rs587783571
NM_001195553.2(DCX):c.628G>T (p.Val210Phe) rs587783573
NM_001195553.2(DCX):c.628del (p.Val210fs) rs2147262801
NM_001195553.2(DCX):c.641T>C (p.Ile214Thr) rs587783574
NM_001195553.2(DCX):c.651del (p.Ile218fs) rs587783575
NM_001195553.2(DCX):c.666del (p.Val224fs) rs587783576
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg) rs587783577
NM_001195553.2(DCX):c.670del (p.Val224fs) rs587783578
NM_001195553.2(DCX):c.681del (p.Lys227fs) rs587783579
NM_001195553.2(DCX):c.681dup (p.Leu228fs) rs587783579
NM_001195553.2(DCX):c.683T>C (p.Leu228Pro) rs587783580
NM_001195553.2(DCX):c.684_685del (p.Tyr229fs) rs1556401744
NM_001195553.2(DCX):c.685_699dup (p.Tyr229_Gly233dup) rs797045518
NM_001195553.2(DCX):c.691_692del (p.Leu231fs) rs1569497266
NM_001195553.2(DCX):c.703C>T (p.Gln235Ter)
NM_001195553.2(DCX):c.705+1G>A rs2147262624
NM_001195553.2(DCX):c.705+1del rs1556401725
NM_001195553.2(DCX):c.706-2A>G rs886039339
NM_001195553.2(DCX):c.734ATG[2] (p.Asp247del) rs587783583
NM_001195553.2(DCX):c.751G>T (p.Ala251Ser) rs587783585
NM_001195553.2(DCX):c.763G>T (p.Glu255Ter) rs727503898
NM_001195553.2(DCX):c.766A>T (p.Lys256Ter) rs587783586
NM_001195553.2(DCX):c.777T>A (p.Tyr259Ter) rs747557639
NM_001195553.2(DCX):c.781C>T (p.Gln261Ter) rs587783588
NM_001195553.2(DCX):c.781del (p.Gln261fs) rs2147635268
NM_001195553.2(DCX):c.808+1G>A rs1921403332
NM_001195553.2(DCX):c.809-1G>A rs587783589
NM_001195553.2(DCX):c.814C>T (p.Arg272Ter) rs587783590
NM_001195553.2(DCX):c.81_85dup (p.Pro29fs) rs797045519
NM_001195553.2(DCX):c.853A>T (p.Lys285Ter) rs587783591
NM_001195553.2(DCX):c.871C>T (p.Gln291Ter)
NM_001195553.2(DCX):c.875dup (p.Thr293fs) rs797045520
NM_001195553.2(DCX):c.907C>T (p.Arg303Ter) rs587783592
NM_001195553.2(DCX):c.95G>A (p.Ser32Asn) rs587783593
NM_178151.2(DCX):c.226_234delCGTTTTCGCins2
NM_178151.2(DCX):c.367del rs587783545

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