ClinVar Miner

List of variants in gene CTNS reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 232
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.*1053T>G rs1048677 0.18814
NM_004937.3(CTNS):c.-258G>A rs559229383 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.220G>A (p.Asp74Asn) rs139364393 0.00116
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.534C>T (p.Ile178=) rs113967200 0.00058
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.123C>T (p.Asn41=) rs148084080 0.00019
NM_004937.3(CTNS):c.697G>A (p.Val233Met) rs201058200 0.00018
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro) rs1314998853 0.00015
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.*313C>T rs146610717 0.00011
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.*1176C>G rs553878990 0.00009
NM_004937.3(CTNS):c.*2036G>A rs184828971 0.00009
NM_004937.3(CTNS):c.556A>C (p.Ile186Leu) rs548772179 0.00009
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.830C>T (p.Thr277Met) rs757009591 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.-645C>T rs537110680 0.00005
NM_004937.3(CTNS):c.139C>T (p.Arg47Trp) rs201153770 0.00005
NM_004937.3(CTNS):c.285A>T (p.Gly95=) rs373998956 0.00005
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr) rs187396540 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.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.635C>T (p.Ala212Val) rs776658046 0.00004
NM_004937.3(CTNS):c.682-9C>T rs943621505 0.00004
NM_004937.3(CTNS):c.730G>A (p.Ala244Thr) rs559490847 0.00004
NM_004937.3(CTNS):c.852+8C>T rs780856527 0.00004
NM_004937.3(CTNS):c.970+5G>A rs753451110 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.*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.621C>T (p.Phe207=) rs749428707 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.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.-643G>A rs887657778 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.140+3A>G rs778641729 0.00001
NM_004937.3(CTNS):c.140G>A (p.Arg47Gln) rs745744798 0.00001
NM_004937.3(CTNS):c.270A>T (p.Thr90=) rs754247532 0.00001
NM_004937.3(CTNS):c.355C>T (p.Arg119Cys) rs771990787 0.00001
NM_004937.3(CTNS):c.363C>T (p.Ser121=) rs746463725 0.00001
NM_004937.3(CTNS):c.367A>G (p.Ile123Val) rs776104111 0.00001
NM_004937.3(CTNS):c.386T>A (p.Val129Glu) rs1009882965 0.00001
NM_004937.3(CTNS):c.442A>T (p.Met148Leu) rs779895948 0.00001
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp) rs754433265 0.00001
NM_004937.3(CTNS):c.535G>A (p.Gly179Ser) rs752632797 0.00001
NM_004937.3(CTNS):c.5T>C (p.Ile2Thr) rs768188337 0.00001
NM_004937.3(CTNS):c.612C>T (p.Asn204=) rs200170842 0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) rs768600603 0.00001
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys) rs764538705 0.00001
NM_004937.3(CTNS):c.792G>A (p.Gln264=) rs148662747 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.886G>A (p.Gly296Ser) rs755702977 0.00001
NM_004937.3(CTNS):c.897T>C (p.Ile299=) rs199824920 0.00001
GRCh38/hg38 17p13.2(chr17:3640170-3656795)x1
NM_001031681.2(CTNS):c.682-5_682-4insCCAGCGCGGTGG
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.*1176_*1179del rs886052875
NM_004937.3(CTNS):c.*1956_*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.*871G>C rs886052871
NM_004937.3(CTNS):c.*983G>A rs2076273486
NM_004937.3(CTNS):c.-136C>A rs886052863
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.1007T>A (p.Phe336Tyr)
NM_004937.3(CTNS):c.1007T>C (p.Phe336Ser)
NM_004937.3(CTNS):c.1024_1035del (p.Ser342_Phe345del) rs745806090
NM_004937.3(CTNS):c.1029C>A (p.Ile343=) rs147428183
NM_004937.3(CTNS):c.1036G>A (p.Asp346Asn)
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.1042G>A (p.Val348Ile)
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val) rs748094459
NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del) rs2076255711
NM_004937.3(CTNS):c.1046T>G (p.Phe349Cys) rs1567716891
NM_004937.3(CTNS):c.1062C>A (p.Phe354Leu) rs762508287
NM_004937.3(CTNS):c.1068G>C (p.Leu356Phe)
NM_004937.3(CTNS):c.1075_1076del (p.Lys359fs) rs779451531
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu) rs560868487
NM_004937.3(CTNS):c.108C>G (p.Asn36Lys)
NM_004937.3(CTNS):c.122A>C (p.Asn41Thr)
NM_004937.3(CTNS):c.140+6T>C
NM_004937.3(CTNS):c.188G>T (p.Arg63Leu)
NM_004937.3(CTNS):c.191C>G (p.Ser64Cys) rs1454743016
NM_004937.3(CTNS):c.221A>G (p.Asp74Gly)
NM_004937.3(CTNS):c.225+3A>G rs2075909295
NM_004937.3(CTNS):c.225+5_225+8del rs1555561048
NM_004937.3(CTNS):c.226-13dup
NM_004937.3(CTNS):c.226G>A (p.Val76Ile) rs1567709217
NM_004937.3(CTNS):c.22A>G (p.Ile8Val)
NM_004937.3(CTNS):c.248C>T (p.Thr83Ile) rs1295370570
NM_004937.3(CTNS):c.253T>A (p.Ser85Thr)
NM_004937.3(CTNS):c.278A>G (p.Asn93Ser)
NM_004937.3(CTNS):c.289C>T (p.Leu97Phe)
NM_004937.3(CTNS):c.306T>C (p.His102=) rs2076094603
NM_004937.3(CTNS):c.311A>G (p.Asn104Ser)
NM_004937.3(CTNS):c.328G>A (p.Gly110Ser)
NM_004937.3(CTNS):c.329+2T>C rs955833453
NM_004937.3(CTNS):c.340_348del (p.Arg114_Leu116del)
NM_004937.3(CTNS):c.343_354del (p.Phe115_Ile118del) rs2150919478
NM_004937.3(CTNS):c.359G>A (p.Ser120Asn) rs2076099606
NM_004937.3(CTNS):c.365C>T (p.Ala122Val) rs2076099841
NM_004937.3(CTNS):c.376A>G (p.Ile126Val)
NM_004937.3(CTNS):c.399C>G (p.Ile133Met)
NM_004937.3(CTNS):c.410C>A (p.Ala137Asp) rs1413852868
NM_004937.3(CTNS):c.425_427del (p.Phe142del) rs1178364162
NM_004937.3(CTNS):c.428A>G (p.Tyr143Cys)
NM_004937.3(CTNS):c.443T>C (p.Met148Thr)
NM_004937.3(CTNS):c.455G>A (p.Arg152Gln)
NM_004937.3(CTNS):c.460A>C (p.Ser154Arg)
NM_004937.3(CTNS):c.462-27_462-3del rs1555563374
NM_004937.3(CTNS):c.49G>A (p.Val17Ile)
NM_004937.3(CTNS):c.514G>T (p.Ala172Ser)
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys) rs1555563446
NM_004937.3(CTNS):c.532A>G (p.Ile178Val)
NM_004937.3(CTNS):c.534C>A (p.Ile178=) rs113967200
NM_004937.3(CTNS):c.534C>G (p.Ile178Met) rs113967200
NM_004937.3(CTNS):c.554A>T (p.Tyr185Phe) rs886038378
NM_004937.3(CTNS):c.561+3A>G
NM_004937.3(CTNS):c.583C>T (p.Pro195Ser)
NM_004937.3(CTNS):c.588C>A (p.Asn196Lys)
NM_004937.3(CTNS):c.592G>T (p.Val198Leu)
NM_004937.3(CTNS):c.616G>A (p.Val206Ile)
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del) rs1555563619
NM_004937.3(CTNS):c.64T>A (p.Ser22Thr)
NM_004937.3(CTNS):c.677A>G (p.Tyr226Cys)
NM_004937.3(CTNS):c.681+2dup
NM_004937.3(CTNS):c.681+5G>A
NM_004937.3(CTNS):c.681G>C (p.Glu227Asp)
NM_004937.3(CTNS):c.683G>T (p.Arg228Leu) rs754201055
NM_004937.3(CTNS):c.684_686dup (p.Gly230dup) rs1555563962
NM_004937.3(CTNS):c.685G>A (p.Gly229Ser) rs200336280
NM_004937.3(CTNS):c.685G>T (p.Gly229Cys) rs200336280
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys) rs1463026342
NM_004937.3(CTNS):c.699G>A (p.Val233=) rs2076195866
NM_004937.3(CTNS):c.70G>A (p.Val24Ile)
NM_004937.3(CTNS):c.715G>A (p.Gly239Ser)
NM_004937.3(CTNS):c.722T>C (p.Leu241Pro)
NM_004937.3(CTNS):c.734G>C (p.Trp245Ser)
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys) rs777367316
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu) rs1567713916
NM_004937.3(CTNS):c.76C>T (p.Leu26Phe)
NM_004937.3(CTNS):c.782C>G (p.Thr261Arg) rs370257007
NM_004937.3(CTNS):c.794T>C (p.Phe265Ser)
NM_004937.3(CTNS):c.814A>C (p.Ile272Leu)
NM_004937.3(CTNS):c.814A>G (p.Ile272Val)
NM_004937.3(CTNS):c.817A>G (p.Lys273Glu) rs2076199463
NM_004937.3(CTNS):c.829A>G (p.Thr277Ala)
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.853-3C>T rs113994210
NM_004937.3(CTNS):c.860T>C (p.Met287Thr)
NM_004937.3(CTNS):c.869A>C (p.Tyr290Ser)
NM_004937.3(CTNS):c.86C>T (p.Pro29Leu)
NM_004937.3(CTNS):c.872A>C (p.Tyr291Ser) rs766108462
NM_004937.3(CTNS):c.878G>A (p.Ser293Asn)
NM_004937.3(CTNS):c.88C>T (p.Pro30Ser)
NM_004937.3(CTNS):c.902A>G (p.Asn301Ser)
NM_004937.3(CTNS):c.907C>T (p.Leu303Phe) rs2142981414
NM_004937.3(CTNS):c.911T>C (p.Leu304Pro)
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.938T>A (p.Leu313His)
NM_004937.3(CTNS):c.944A>G (p.Gln315Arg) rs1064795587
NM_004937.3(CTNS):c.948G>A (p.Met316Ile)
NM_004937.3(CTNS):c.969C>T (p.Asn323=) rs121908128
NM_004937.3(CTNS):c.970+3G>A
NM_004937.3(CTNS):c.976T>A (p.Trp326Arg)
NM_004937.3(CTNS):c.976T>C (p.Trp326Arg)
NM_004937.3(CTNS):c.980C>T (p.Thr327Met)
NM_004937.3(CTNS):c.982C>G (p.Leu328Val)
NM_004937.3(CTNS):c.985A>G (p.Ile329Val)

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