ClinVar Miner

List of variants in gene CTNS studied for Nephropathic cystinosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 267
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.*738T>G rs224562 0.99537
NM_004937.3(CTNS):c.329+22C>G rs459613 0.88549
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_004937.3(CTNS):c.*2383dup rs397702352 0.82623
NM_004937.3(CTNS):c.*2306T>C rs161397 0.71652
NM_004937.3(CTNS):c.*1440A>G rs161398 0.67203
NM_004937.3(CTNS):c.461+52G>A rs467277 0.51389
NM_004937.3(CTNS):c.461+49A>G rs457419 0.35954
NM_004937.3(CTNS):c.141-103G>A rs222778 0.35912
NM_004937.3(CTNS):c.970+70C>T rs222753 0.34692
NM_004937.3(CTNS):c.*737T>A rs222754 0.24184
NM_004937.3(CTNS):c.*405G>A rs760273 0.21386
NM_004937.3(CTNS):c.*555T>C rs1048646 0.19518
NM_004937.3(CTNS):c.*572A>G rs3826493 0.19518
NM_004937.3(CTNS):c.*627T>C rs1048647 0.19492
NM_004937.3(CTNS):c.*631T>C rs1048648 0.19488
NM_004937.3(CTNS):c.*300C>G rs2873624 0.19455
NM_004937.3(CTNS):c.*715C>T rs1048649 0.19427
NM_004937.3(CTNS):c.*421T>C rs760274 0.19404
NM_004937.3(CTNS):c.*410A>G rs3826496 0.19387
NM_004937.3(CTNS):c.*1025A>G rs1048674 0.19022
NM_004937.3(CTNS):c.*1024C>T rs1048673 0.19015
NM_004937.3(CTNS):c.*1031_*1033dup rs1355863772 0.18984
NM_004937.3(CTNS):c.*1116C>T rs1048682 0.18891
NM_004937.3(CTNS):c.*1053T>G rs1048677 0.18814
NM_004937.3(CTNS):c.*1152A>G rs2235104 0.18705
NM_004937.3(CTNS):c.461+54G>A rs12938401 0.15247
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_004937.3(CTNS):c.*527G>A rs79668190 0.06278
NM_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
NM_004937.3(CTNS):c.*1665A>G rs112317698 0.04756
NM_004937.3(CTNS):c.*1866C>T rs111430685 0.03936
NM_004937.3(CTNS):c.*1633C>G rs112032534 0.03822
NM_004937.3(CTNS):c.*1595C>T rs112299490 0.03812
NM_004937.3(CTNS):c.*2115G>A rs77196744 0.03574
NM_004937.3(CTNS):c.970+15G>A rs76153698 0.03340
NM_004937.3(CTNS):c.-230+11A>G rs116000219 0.03310
NM_004937.3(CTNS):c.*1578C>G rs142813435 0.02513
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_004937.3(CTNS):c.*851G>A rs75192283 0.01649
NM_004937.3(CTNS):c.*1669C>T rs117079843 0.01548
NM_004937.3(CTNS):c.-635G>C rs112140949 0.01378
NM_004937.3(CTNS):c.*2127G>A rs72835828 0.01197
NM_004937.3(CTNS):c.*2012C>T rs138871128 0.00686
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824 0.00664
NM_004937.3(CTNS):c.*1206T>C rs115239409 0.00577
NM_004937.3(CTNS):c.*1165C>T rs112915401 0.00534
NM_004937.3(CTNS):c.*2132G>A rs74485511 0.00447
NM_004937.3(CTNS):c.*2119G>T rs80249487 0.00388
NM_004937.3(CTNS):c.*1117G>A rs78833685 0.00271
NM_004937.3(CTNS):c.-258G>A rs559229383 0.00259
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390 0.00219
NM_004937.3(CTNS):c.*942C>T rs140127855 0.00207
NM_004937.3(CTNS):c.*835A>C rs57765820 0.00198
NM_004937.3(CTNS):c.*1366C>G rs558637146 0.00086
NM_004937.3(CTNS):c.*1899G>A rs563849197 0.00072
NM_004937.3(CTNS):c.695G>A (p.Arg232His) rs142641674 0.00072
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn) rs140326392 0.00072
NM_004937.3(CTNS):c.*2082C>T rs182280281 0.00044
NM_004937.3(CTNS):c.853-15G>A rs376050426 0.00043
NM_004937.3(CTNS):c.561+4C>T rs111256750 0.00040
NM_004937.3(CTNS):c.*469G>A rs150501484 0.00036
NM_004937.3(CTNS):c.94G>A (p.Val32Ile) rs146684402 0.00036
NM_004937.3(CTNS):c.661G>A (p.Val221Met) rs138270433 0.00029
NM_004937.3(CTNS):c.*262G>A rs201647994 0.00026
NM_004937.3(CTNS):c.*1659C>T rs778764728 0.00024
NM_004937.3(CTNS):c.444G>A (p.Met148Ile) rs199977728 0.00023
NM_004937.3(CTNS):c.*129C>T rs746209035 0.00021
NM_004937.3(CTNS):c.*431C>T rs886052868 0.00019
NM_004937.3(CTNS):c.332C>T (p.Pro111Leu) rs149689304 0.00014
NM_004937.3(CTNS):c.480C>T (p.Phe160=) rs147565118 0.00012
NM_004937.3(CTNS):c.694C>T (p.Arg232Cys) rs138823792 0.00011
NM_004937.3(CTNS):c.*55C>G rs751680506 0.00010
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_004937.3(CTNS):c.*1176C>G rs553878990 0.00009
NM_004937.3(CTNS):c.*2036G>A rs184828971 0.00009
NM_004937.3(CTNS):c.356G>A (p.Arg119His) rs375970075 0.00008
NM_004937.3(CTNS):c.*2377G>A rs543014932 0.00007
NM_004937.3(CTNS):c.-20+13T>C rs780032861 0.00007
NM_004937.3(CTNS):c.*1336G>A rs541263497 0.00006
NM_004937.3(CTNS):c.*1874G>A rs886052880 0.00006
NM_004937.3(CTNS):c.*1331G>A rs555688774 0.00005
NM_004937.3(CTNS):c.*1383C>T rs886052877 0.00005
NM_004937.3(CTNS):c.*2020T>C rs543577418 0.00005
NM_004937.3(CTNS):c.*657A>G rs970677281 0.00005
NM_004937.3(CTNS):c.285A>T (p.Gly95=) rs373998956 0.00005
NM_004937.3(CTNS):c.*1680G>A rs572393960 0.00004
NM_004937.3(CTNS):c.*2477C>G rs781672689 0.00004
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) rs121908127 0.00004
NM_004937.3(CTNS):c.1083G>A (p.Pro361=) rs371189196 0.00004
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys) rs113875421 0.00004
NM_004937.3(CTNS):c.407T>G (p.Val136Gly) rs764372178 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_004937.3(CTNS):c.730G>A (p.Ala244Thr) rs559490847 0.00004
NM_004937.3(CTNS):c.*1249C>T rs886052876 0.00003
NM_004937.3(CTNS):c.*1397C>T rs886052878 0.00003
NM_004937.3(CTNS):c.*1502C>G rs377728246 0.00003
NM_004937.3(CTNS):c.*16T>C rs201198798 0.00003
NM_004937.3(CTNS):c.*1708A>G rs867189674 0.00003
NM_004937.3(CTNS):c.*180C>T rs552754402 0.00003
NM_004937.3(CTNS):c.*2195G>A rs886052883 0.00003
NM_004937.3(CTNS):c.*2492G>A rs886052884 0.00003
NM_004937.3(CTNS):c.*280G>A rs200771636 0.00003
NM_004937.3(CTNS):c.-47A>C rs886052865 0.00003
NM_004937.3(CTNS):c.461+8C>T rs368822078 0.00003
NM_004937.3(CTNS):c.*176G>A rs200021713 0.00002
NM_004937.3(CTNS):c.*1889C>T rs557935819 0.00002
NM_004937.3(CTNS):c.*206C>T rs367951710 0.00002
NM_004937.3(CTNS):c.*2243G>A rs897077378 0.00002
NM_004937.3(CTNS):c.*259C>T rs771746416 0.00002
NM_004937.3(CTNS):c.*550G>A rs920508760 0.00002
NM_004937.3(CTNS):c.187C>T (p.Arg63Cys) rs555311279 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_004937.3(CTNS):c.481G>A (p.Asp161Asn) rs371533565 0.00002
NM_004937.3(CTNS):c.*1250G>A rs960133187 0.00001
NM_004937.3(CTNS):c.*1472G>A rs563539494 0.00001
NM_004937.3(CTNS):c.*1501T>C rs886052879 0.00001
NM_004937.3(CTNS):c.*2139T>C rs1180495360 0.00001
NM_004937.3(CTNS):c.*599T>C rs1389727221 0.00001
NM_004937.3(CTNS):c.-24C>T rs886052866 0.00001
NM_004937.3(CTNS):c.-8C>T rs372701935 0.00001
NM_004937.3(CTNS):c.1008T>G (p.Phe336Leu) rs762561354 0.00001
NM_004937.3(CTNS):c.1071C>T (p.Tyr357=) rs1210146657 0.00001
NM_004937.3(CTNS):c.363C>T (p.Ser121=) rs746463725 0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp) rs754433265 0.00001
NM_004937.3(CTNS):c.61+2T>C rs767289120 0.00001
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn) rs113994208 0.00001
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601 0.00001
NM_004937.3(CTNS):c.681+1G>A rs749317721 0.00001
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys) rs764538705 0.00001
NM_004937.3(CTNS):c.823G>A (p.Ala275Thr) rs752869556 0.00001
NM_004937.3(CTNS):c.82G>C (p.Val28Leu) rs759921102 0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931 0.00001
NM_004937.2(CTNS):c.-581A>T rs1031783359
NM_004937.3(CTNS):c.*100G>T rs2076259110
NM_004937.3(CTNS):c.*1024_*1030delinsTGAAGCTGTC rs886052872
NM_004937.3(CTNS):c.*1033_*1034insGGC rs397831765
NM_004937.3(CTNS):c.*1046_*1047dup rs772764926
NM_004937.3(CTNS):c.*1047dup rs772764926
NM_004937.3(CTNS):c.*1125C>T rs886052874
NM_004937.3(CTNS):c.*1128G>A rs115643745
NM_004937.3(CTNS):c.*1174CT[1] rs397857879
NM_004937.3(CTNS):c.*1176_*1179del rs886052875
NM_004937.3(CTNS):c.*1956_*1957del rs397856854
NM_004937.3(CTNS):c.*1957del rs397856854
NM_004937.3(CTNS):c.*1957dup rs397856854
NM_004937.3(CTNS):c.*2059C>G rs2076290375
NM_004937.3(CTNS):c.*577T>C rs886052869
NM_004937.3(CTNS):c.*654G>T rs886052870
NM_004937.3(CTNS):c.*847C>T rs146131305
NM_004937.3(CTNS):c.*871G>C rs886052871
NM_004937.3(CTNS):c.*983G>A rs2076273486
NM_004937.3(CTNS):c.-136C>A rs886052863
NM_004937.3(CTNS):c.-19-1G>A rs1555558034
NM_004937.3(CTNS):c.-23AG[1] rs550436044
NM_004937.3(CTNS):c.-272A>C rs534368692
NM_004937.3(CTNS):c.-74A>T rs886052864
NM_004937.3(CTNS):c.1024_1035del (p.Ser342_Phe345del) rs745806090
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
NM_004937.3(CTNS):c.1039GTC[1] (p.Val348del) rs1555564879
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val) rs748094459
NM_004937.3(CTNS):c.1062C>A (p.Phe354Leu) rs762508287
NM_004937.3(CTNS):c.1075_1076del (p.Lys359fs) rs779451531
NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln) rs1057517330
NM_004937.3(CTNS):c.120dup (p.Asn41fs)
NM_004937.3(CTNS):c.140+1G>C
NM_004937.3(CTNS):c.140+1_140+20del
NM_004937.3(CTNS):c.140+2T>C rs2075872773
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del) rs786204550
NM_004937.3(CTNS):c.206_210del (p.Ile69fs) rs879758262
NM_004937.3(CTNS):c.20del (p.Thr7fs) rs1555558078
NM_004937.3(CTNS):c.225+1G>A rs1555561049
NM_004937.3(CTNS):c.225+3A>T
NM_004937.3(CTNS):c.225+5_225+6delinsCC rs786204541
NM_004937.3(CTNS):c.225+5_225+7dup rs1555561050
NM_004937.3(CTNS):c.225+5_225+8del rs1555561048
NM_004937.3(CTNS):c.226-1G>A
NM_004937.3(CTNS):c.251del (p.Asn84fs) rs1057516296
NM_004937.3(CTNS):c.257_258del (p.Ser86fs) rs879255614
NM_004937.3(CTNS):c.283G>T (p.Gly95Ter) rs121908124
NM_004937.3(CTNS):c.292dup (p.Thr98fs) rs786204434
NM_004937.3(CTNS):c.306T>C (p.His102=) rs2076094603
NM_004937.3(CTNS):c.314_317del (p.His105fs)
NM_004937.3(CTNS):c.320_323del (p.Asn107fs) rs1555562830
NM_004937.3(CTNS):c.323del (p.Gln108fs) rs879255615
NM_004937.3(CTNS):c.329+2T>C rs955833453
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_004937.3(CTNS):c.395G>A (p.Trp132Ter)
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer) rs1555558099
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_004937.3(CTNS):c.425_427del (p.Phe142del) rs1178364162
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter) rs1597647930
NM_004937.3(CTNS):c.451A>G (p.Arg151Gly) rs1555563010
NM_004937.3(CTNS):c.462-1G>A
NM_004937.3(CTNS):c.462-27_462-3del rs1555563374
NM_004937.3(CTNS):c.479del (p.Phe160fs) rs2076150607
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp) rs121908126
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys) rs1555563446
NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer) rs745365232
NM_004937.3(CTNS):c.530A>G (p.Asn177Ser)
NM_004937.3(CTNS):c.534C>A (p.Ile178=) rs113967200
NM_004937.3(CTNS):c.546G>A (p.Trp182Ter)
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.561+1del rs786204667
NM_004937.3(CTNS):c.562-2A>G
NM_004937.3(CTNS):c.562-2_562-1del rs1555563521
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter) rs1597654770
NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer) rs1555563568
NM_004937.3(CTNS):c.600del (p.Pro200_Val201insTer)
NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer) rs1567695026
NM_004937.3(CTNS):c.61+1G>A rs1555558116
NM_004937.3(CTNS):c.61+5G>A rs1407498555
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del) rs760256854
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del) rs1555563619
NM_004937.3(CTNS):c.61G>T (p.Glu21Ter) rs2150889009
NM_004937.3(CTNS):c.61_61+2del rs2075652654
NM_004937.3(CTNS):c.62-2864_225+2278del
NM_004937.3(CTNS):c.62-2A>G rs1555560637
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
NM_004937.3(CTNS):c.681+1del rs1555563658
NM_004937.3(CTNS):c.681+2T>C rs1057516723
NM_004937.3(CTNS):c.681+8del rs2150923282
NM_004937.3(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_004937.3(CTNS):c.682-1G>A rs1057516771
NM_004937.3(CTNS):c.682-1G>T rs1057516771
NM_004937.3(CTNS):c.684_686dup (p.Gly230dup) rs1555563962
NM_004937.3(CTNS):c.696_697dup (p.Val233fs) rs1555563982
NM_004937.3(CTNS):c.696dup (p.Val233fs) rs113994209
NM_004937.3(CTNS):c.699G>A (p.Val233=) rs2076195866
NM_004937.3(CTNS):c.699_700del (p.Ser234fs) rs766981777
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter) rs763089013
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys) rs777367316
NM_004937.3(CTNS):c.751_752del (p.Thr251fs)
NM_004937.3(CTNS):c.768dup (p.Val257fs) rs1567713938
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.782C>G (p.Thr261Arg) rs370257007
NM_004937.3(CTNS):c.809_811del (p.Ser270del) rs786204632
NM_004937.3(CTNS):c.814_818delinsT (p.Ile272fs)
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.838A>C (p.Lys280Gln) rs2076200184
NM_004937.3(CTNS):c.839A>C (p.Lys280Thr) rs2150925451
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg) rs2150925451
NM_004937.3(CTNS):c.853-1G>A rs1555564588
NM_004937.3(CTNS):c.853-2A>G rs1475322504
NM_004937.3(CTNS):c.853-3C>T rs113994210
NM_004937.3(CTNS):c.864C>A (p.Asn288Lys)
NM_004937.3(CTNS):c.869dup (p.Tyr290Ter) rs1555564600
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter) rs776842972
NM_004937.3(CTNS):c.877dup (p.Ser293fs)
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter) rs917630768
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly) rs1263951539
NM_004937.3(CTNS):c.916T>A (p.Phe306Ile) rs912184981
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.944A>G (p.Gln315Arg) rs1064795587
NM_004937.3(CTNS):c.955C>T (p.Gln319Ter)
NM_004937.3(CTNS):c.963del (p.Ser320_Tyr321insTer)
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys) rs121908128
NM_004937.3(CTNS):c.971-12G>A rs375952052
NM_004937.3(CTNS):c.971-1G>C rs2142982540
NM_004937.3(CTNS):c.971-1dup rs1555564823
NM_004937.3(CTNS):c.971-2dup
NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)

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