ClinVar Miner

List of variants in gene DCX reported as likely pathogenic

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001195553.2(DCX):c.-22-364C>T rs761786389 0.00003
NM_001195553.2(DCX):c.1057C>T (p.Pro353Ser)
NM_001195553.2(DCX):c.167G>C (p.Arg56Pro) rs587783525
NM_001195553.2(DCX):c.167G>T (p.Arg56Leu) rs587783525
NM_001195553.2(DCX):c.170T>G (p.Phe57Cys) rs587783526
NM_001195553.2(DCX):c.171_182del (p.Phe57_Gly61delinsLeu)
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) rs104894779
NM_001195553.2(DCX):c.185A>G (p.Asp62Gly) rs587783528
NM_001195553.2(DCX):c.187C>T (p.Arg63Cys) rs587783529
NM_001195553.2(DCX):c.190T>A (p.Tyr64Asn) rs1556405129
NM_001195553.2(DCX):c.191A>G (p.Tyr64Cys) rs587783530
NM_001195553.2(DCX):c.195C>A (p.Phe65Leu) rs587783531
NM_001195553.2(DCX):c.226C>T (p.Arg76Cys) rs587783534
NM_001195553.2(DCX):c.233G>T (p.Arg78Leu) rs104894784
NM_001195553.2(DCX):c.263C>T (p.Thr88Met)
NM_001195553.2(DCX):c.280A>G (p.Asn94Asp) rs797045512
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys) rs1556405057
NM_001195553.2(DCX):c.289C>G (p.Leu97Val) rs1928574753
NM_001195553.2(DCX):c.298G>C (p.Gly100Arg)
NM_001195553.2(DCX):c.299G>A (p.Gly100Glu) rs587783538
NM_001195553.2(DCX):c.302T>G (p.Val101Gly)
NM_001195553.2(DCX):c.305G>A (p.Arg102His) rs267606317
NM_001195553.2(DCX):c.313_315dup (p.Tyr105dup) rs797045513
NM_001195553.2(DCX):c.337A>T (p.Ile113Phe) rs587783542
NM_001195553.2(DCX):c.364+1G>A rs2147276043
NM_001195553.2(DCX):c.377T>A (p.Val126Asp) rs587783546
NM_001195553.2(DCX):c.380G>A (p.Cys127Tyr) rs587783547
NM_001195553.2(DCX):c.383C>T (p.Ser128Phe)
NM_001195553.2(DCX):c.478del (p.Gln160fs) rs2147263208
NM_001195553.2(DCX):c.532C>T (p.Arg178Cys) rs587783558
NM_001195553.2(DCX):c.536C>A (p.Pro179His)
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.548C>T (p.Thr183Ile) rs2147263018
NM_001195553.2(DCX):c.551T>A (p.Ile184Asn) rs587783561
NM_001195553.2(DCX):c.556C>T (p.Arg186Cys) rs587783562
NM_001195553.2(DCX):c.571C>A (p.Pro191Thr) rs587783565
NM_001195553.2(DCX):c.586C>T (p.Arg196Cys) rs587783568
NM_001195553.2(DCX):c.596T>C (p.Leu199Pro) rs587783569
NM_001195553.2(DCX):c.601A>T (p.Lys201Ter) rs1927748382
NM_001195553.2(DCX):c.614A>T (p.His205Leu) rs587783572
NM_001195553.2(DCX):c.665C>T (p.Thr222Ile) rs1603423268
NM_001195553.2(DCX):c.667G>C (p.Gly223Arg) rs587783577
NM_001195553.2(DCX):c.688A>C (p.Thr230Pro) rs587783581
NM_001195553.2(DCX):c.724T>A (p.Phe242Ile) rs587783582
NM_001195553.2(DCX):c.746T>G (p.Phe249Cys) rs587783584
NM_001195553.2(DCX):c.752C>A (p.Ala251Asp) rs1085307919
NM_001195553.2(DCX):c.757G>C (p.Gly253Arg) rs1556376311
NM_001195553.2(DCX):c.773G>C (p.Arg258Pro) rs587783587
NM_001195553.2(DCX):c.788A>G (p.Asp263Gly) rs1921404698
NM_001195553.2(DCX):c.799del (p.Asp267fs) rs2147635206
NM_001195553.2(DCX):c.808+1G>A rs1921403332
NM_001195553.2(DCX):c.809-1G>A rs587783589
NM_001195553.2(DCX):c.907C>T (p.Arg303Ter) rs587783592

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