ClinVar Miner

List of variants in gene CTNS studied for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
Download table as spreadsheet
HGVS dbSNP
CTNS, -295G-C, PROMOTER
CTNS, IVS7AS, C-G, -10
NC_000017.10:g.(?_3539712)_(3560109_?)del
NC_000017.10:g.(?_3539712)_(3561479_?)del
NC_000017.10:g.(?_3539712)_(3561489_?)del
NC_000017.10:g.(?_3550718)_(3552245_?)del
NC_000017.10:g.(?_3550728)_(3552235_?)del
NC_000017.10:g.(?_3550738)_(3561469_?)del
NC_000017.10:g.(?_3561289)_(3564038_?)del
NM_001031681.2(CTNS):c.*1001C>G rs558637146
NM_001031681.2(CTNS):c.*1018C>T rs886052877
NM_001031681.2(CTNS):c.*1032C>T rs886052878
NM_001031681.2(CTNS):c.*1075A>G rs161398
NM_001031681.2(CTNS):c.*1107G>A rs563539494
NM_001031681.2(CTNS):c.*1136T>C rs886052879
NM_001031681.2(CTNS):c.*1213C>G rs142813435
NM_001031681.2(CTNS):c.*1230C>T rs112299490
NM_001031681.2(CTNS):c.*1268C>G rs112032534
NM_001031681.2(CTNS):c.*1300A>G rs112317698
NM_001031681.2(CTNS):c.*1304C>T rs117079843
NM_001031681.2(CTNS):c.*1315G>A rs572393960
NM_001031681.2(CTNS):c.*1501C>T rs111430685
NM_001031681.2(CTNS):c.*1509G>A rs886052880
NM_001031681.2(CTNS):c.*1534G>A rs563849197
NM_001031681.2(CTNS):c.*1591_*1592del rs397856854
NM_001031681.2(CTNS):c.*1592del rs397856854
NM_001031681.2(CTNS):c.*1592dup rs397856854
NM_001031681.2(CTNS):c.*162G>A rs79668190
NM_001031681.2(CTNS):c.*1671G>A rs184828971
NM_001031681.2(CTNS):c.*1750G>A rs77196744
NM_001031681.2(CTNS):c.*1754G>T rs80249487
NM_001031681.2(CTNS):c.*1762G>A rs72835828
NM_001031681.2(CTNS):c.*1767G>A rs74485511
NM_001031681.2(CTNS):c.*1830G>A rs886052883
NM_001031681.2(CTNS):c.*190T>C rs1048646
NM_001031681.2(CTNS):c.*1941T>C rs161397
NM_001031681.2(CTNS):c.*2018dup rs397702352
NM_001031681.2(CTNS):c.*207A>G rs3826493
NM_001031681.2(CTNS):c.*2112C>G rs781672689
NM_001031681.2(CTNS):c.*2127G>A rs886052884
NM_001031681.2(CTNS):c.*212T>C rs886052869
NM_001031681.2(CTNS):c.*262T>C rs1048647
NM_001031681.2(CTNS):c.*266T>C rs1048648
NM_001031681.2(CTNS):c.*289G>T rs886052870
NM_001031681.2(CTNS):c.*350C>T rs1048649
NM_001031681.2(CTNS):c.*372T>A rs222754
NM_001031681.2(CTNS):c.*373T>G rs224562
NM_001031681.2(CTNS):c.*40G>A rs760273
NM_001031681.2(CTNS):c.*45A>G rs3826496
NM_001031681.2(CTNS):c.*482C>T rs146131305
NM_001031681.2(CTNS):c.*486G>A rs75192283
NM_001031681.2(CTNS):c.*506G>C rs886052871
NM_001031681.2(CTNS):c.*56T>C rs760274
NM_001031681.2(CTNS):c.*577C>T rs140127855
NM_001031681.2(CTNS):c.*659C>T rs1048673
NM_001031681.2(CTNS):c.*659_*665delinsTGAAGCTGTC rs886052872
NM_001031681.2(CTNS):c.*660A>G rs1048674
NM_001031681.2(CTNS):c.*666_*668dup rs1355863772
NM_001031681.2(CTNS):c.*668_*669insGGC rs397831765
NM_001031681.2(CTNS):c.*66C>T rs886052868
NM_001031681.2(CTNS):c.*681_*682dup rs772764926
NM_001031681.2(CTNS):c.*682dup rs772764926
NM_001031681.2(CTNS):c.*688T>G rs1048677
NM_001031681.2(CTNS):c.*751C>T rs1048682
NM_001031681.2(CTNS):c.*752G>A rs78833685
NM_001031681.2(CTNS):c.*760C>T rs886052874
NM_001031681.2(CTNS):c.*787A>G rs2235104
NM_001031681.2(CTNS):c.*800C>T rs112915401
NM_001031681.2(CTNS):c.*809_*810CT[1] rs397857879
NM_001031681.2(CTNS):c.*811C>G rs553878990
NM_001031681.2(CTNS):c.*811_*814del rs886052875
NM_001031681.2(CTNS):c.*841T>C rs115239409
NM_001031681.2(CTNS):c.*884C>T rs886052876
NM_001031681.2(CTNS):c.*971G>A rs541263497
NM_001031681.2(CTNS):c.-136C>A rs886052863
NM_001031681.2(CTNS):c.-19-1G>A rs1555558034
NM_001031681.2(CTNS):c.-20+13T>C rs780032861
NM_001031681.2(CTNS):c.-213T>C rs537567463
NM_001031681.2(CTNS):c.-230+134A>G rs116000219
NM_001031681.2(CTNS):c.-230+40G>A rs17707869
NM_001031681.2(CTNS):c.-230+81A>C rs534368692
NM_001031681.2(CTNS):c.-230+95G>A rs559229383
NM_001031681.2(CTNS):c.-239C>T rs886052862
NM_001031681.2(CTNS):c.-23_-22AG[1] rs550436044
NM_001031681.2(CTNS):c.-241G>T rs886052861
NM_001031681.2(CTNS):c.-24C>T rs886052866
NM_001031681.2(CTNS):c.-306T>C rs886052860
NM_001031681.2(CTNS):c.-335C>T rs11657606
NM_001031681.2(CTNS):c.-353G>A rs373260107
NM_001031681.2(CTNS):c.-374C>T rs530371788
NM_001031681.2(CTNS):c.-397T>C rs111977802
NM_001031681.2(CTNS):c.-47A>C rs886052865
NM_001031681.2(CTNS):c.-74A>T rs886052864
NM_001031681.2(CTNS):c.-8C>T rs372701935
NM_001031681.2(CTNS):c.1008T>G (p.Phe336Leu) rs762561354
NM_001031681.2(CTNS):c.1015G>A (p.Gly339Arg) rs121908127
NM_001031681.2(CTNS):c.1024_1035del (p.Ser342_Phe345del) rs745806090
NM_001031681.2(CTNS):c.1039_1041GTC[1] (p.Val348del) rs1555564879
NM_001031681.2(CTNS):c.1075_1076del (p.Lys359fs) rs779451531
NM_001031681.2(CTNS):c.1082C>T (p.Pro361Leu)
NM_001031681.2(CTNS):c.1083G>A (p.Pro361=) rs371189196
NM_001031681.2(CTNS):c.1085+17T>C rs1057517330
NM_001031681.2(CTNS):c.1085+35T>C rs201198798
NM_001031681.2(CTNS):c.1085+74C>G rs751680506
NM_001031681.2(CTNS):c.1086-119C>T rs746209035
NM_001031681.2(CTNS):c.108C>T (p.Asn36=) rs117404824
NM_001031681.2(CTNS):c.1100G>A (p.Arg367His) rs201647994
NM_001031681.2(CTNS):c.1118G>A (p.Arg373His) rs200771636
NM_001031681.2(CTNS):c.1138C>G (p.Pro380Ala) rs2873624
NM_001031681.2(CTNS):c.116C>T (p.Ser39Leu) rs144751390
NM_001031681.2(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_001031681.2(CTNS):c.140+1G>T
NM_001031681.2(CTNS):c.141-4A>C rs1437667230
NM_001031681.2(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_001031681.2(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204
NM_001031681.2(CTNS):c.199_219del (p.Ile67_Pro73del) rs786204550
NM_001031681.2(CTNS):c.206_210del (p.Ile69fs) rs879758262
NM_001031681.2(CTNS):c.20del (p.Thr7fs) rs1555558078
NM_001031681.2(CTNS):c.225+1G>A rs1555561049
NM_001031681.2(CTNS):c.225+5_225+6delinsCC rs786204541
NM_001031681.2(CTNS):c.225+5_225+7dup rs1555561050
NM_001031681.2(CTNS):c.225+5_225+8del rs1555561048
NM_001031681.2(CTNS):c.251del (p.Asn84fs) rs1057516296
NM_001031681.2(CTNS):c.283G>T (p.Gly95Ter) rs121908124
NM_001031681.2(CTNS):c.292dup (p.Thr98fs) rs786204434
NM_001031681.2(CTNS):c.320_323del (p.Asn107fs) rs1555562830
NM_001031681.2(CTNS):c.323del (p.Gln108fs) rs879255615
NM_001031681.2(CTNS):c.329+2T>C rs955833453
NM_001031681.2(CTNS):c.332C>T (p.Pro111Leu) rs149689304
NM_001031681.2(CTNS):c.356G>A (p.Arg119His) rs375970075
NM_001031681.2(CTNS):c.363C>T (p.Ser121=) rs746463725
NM_001031681.2(CTNS):c.407T>G (p.Val136Gly) rs764372178
NM_001031681.2(CTNS):c.40del (p.Pro13_Leu14insTer) rs1555558099
NM_001031681.2(CTNS):c.414G>A (p.Trp138Ter) rs113994205
NM_001031681.2(CTNS):c.416C>T (p.Ser139Phe) rs267606754
NM_001031681.2(CTNS):c.422C>T (p.Ser141Phe)
NM_001031681.2(CTNS):c.425_427del (p.Phe142del) rs1178364162
NM_001031681.2(CTNS):c.429C>A (p.Tyr143Ter)
NM_001031681.2(CTNS):c.444G>A (p.Met148Ile) rs199977728
NM_001031681.2(CTNS):c.451A>G (p.Arg151Gly) rs1555563010
NM_001031681.2(CTNS):c.461+8C>T rs368822078
NM_001031681.2(CTNS):c.462-27_462-3del rs1555563374
NM_001031681.2(CTNS):c.462-7C>A rs189632527
NM_001031681.2(CTNS):c.462T>C (p.Ser154=) rs77453839
NM_001031681.2(CTNS):c.473T>C (p.Leu158Pro) rs113994206
NM_001031681.2(CTNS):c.504G>A (p.Thr168=) rs1800528
NM_001031681.2(CTNS):c.506G>A (p.Gly169Asp) rs121908126
NM_001031681.2(CTNS):c.518A>G (p.Tyr173Cys) rs1555563446
NM_001031681.2(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer) rs745365232
NM_001031681.2(CTNS):c.561+1del rs786204667
NM_001031681.2(CTNS):c.561+4C>T rs111256750
NM_001031681.2(CTNS):c.562-2_562-1del rs1555563521
NM_001031681.2(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_001031681.2(CTNS):c.58_59TG[1] (p.Cys20_Glu21delinsTer) rs1567695026
NM_001031681.2(CTNS):c.592del (p.Gly197_Val198insTer) rs1555563568
NM_001031681.2(CTNS):c.61+1G>A rs1555558116
NM_001031681.2(CTNS):c.611_613ACG[1] (p.Asp205del) rs760256854
NM_001031681.2(CTNS):c.613G>A (p.Asp205Asn) rs113994208
NM_001031681.2(CTNS):c.619_621TTC[1] (p.Phe208del) rs1555563619
NM_001031681.2(CTNS):c.62-1G>A
NM_001031681.2(CTNS):c.62-2A>G rs1555560637
NM_001031681.2(CTNS):c.646dup (p.Thr216fs) rs893207601
NM_001031681.2(CTNS):c.681+1del rs1555563658
NM_001031681.2(CTNS):c.681+2T>C rs1057516723
NM_001031681.2(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_001031681.2(CTNS):c.682-1G>A rs1057516771
NM_001031681.2(CTNS):c.682-1G>T
NM_001031681.2(CTNS):c.684_686dup (p.Gly230dup) rs1555563962
NM_001031681.2(CTNS):c.694C>T (p.Arg232Cys) rs138823792
NM_001031681.2(CTNS):c.694_695CG[3] (p.Val233fs) rs1555563982
NM_001031681.2(CTNS):c.695G>A (p.Arg232His) rs142641674
NM_001031681.2(CTNS):c.696dup (p.Val233fs) rs113994209
NM_001031681.2(CTNS):c.734G>A (p.Trp245Ter) rs763089013
NM_001031681.2(CTNS):c.73A>T (p.Ser25Cys) rs777367316
NM_001031681.2(CTNS):c.751_754delinsCG (p.Thr251fs) rs1555564051
NM_001031681.2(CTNS):c.768dup (p.Val257fs) rs1567713938
NM_001031681.2(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_001031681.2(CTNS):c.779C>T (p.Thr260Ile) rs161400
NM_001031681.2(CTNS):c.809_811del (p.Ser270del) rs786204632
NM_001031681.2(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_001031681.2(CTNS):c.82G>C (p.Val28Leu) rs759921102
NM_001031681.2(CTNS):c.833T>C (p.Leu278Pro)
NM_001031681.2(CTNS):c.853-15G>A rs376050426
NM_001031681.2(CTNS):c.853-1G>A rs1555564588
NM_001031681.2(CTNS):c.853-2A>G rs1475322504
NM_001031681.2(CTNS):c.869dup (p.Tyr290Ter) rs1555564600
NM_001031681.2(CTNS):c.890G>A (p.Trp297Ter) rs917630768
NM_001031681.2(CTNS):c.914A>G (p.Asp305Gly) rs1263951539
NM_001031681.2(CTNS):c.922G>A (p.Gly308Arg) rs746307931
NM_001031681.2(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_001031681.2(CTNS):c.944A>G (p.Gln315Arg) rs1064795587
NM_001031681.2(CTNS):c.94G>A (p.Val32Ile) rs146684402
NM_001031681.2(CTNS):c.969C>G (p.Asn323Lys) rs121908128
NM_001031681.2(CTNS):c.970+15G>A rs76153698
NM_001031681.2(CTNS):c.970G>A (p.Asp324Asn) rs140326392
NM_001031681.2(CTNS):c.971-12G>A rs375952052
NM_001031681.2(CTNS):c.971-1dup rs1555564823
NM_004937.3(CTNS):c.559_561+24del rs113994211

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