ClinVar Miner

List of variants in gene CTNS reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 536
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
NM_004937.3(CTNS):c.970+15G>A rs76153698 0.03340
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_004937.3(CTNS):c.-635G>C rs112140949 0.01378
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824 0.00664
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.327C>T (p.Thr109=) rs150554216 0.00141
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn) rs139364393 0.00116
NM_004937.3(CTNS):c.834G>A (p.Leu278=) rs139519275 0.00094
NM_004937.3(CTNS):c.461+10del rs377470989 0.00077
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.516C>T (p.Ala172=) rs143405190 0.00068
NM_004937.3(CTNS):c.534C>T (p.Ile178=) rs113967200 0.00058
NM_004937.3(CTNS):c.853-15G>A rs376050426 0.00043
NM_004937.3(CTNS):c.562-20T>C rs764063960 0.00042
NM_004937.3(CTNS):c.561+4C>T rs111256750 0.00040
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.444G>A (p.Met148Ile) rs199977728 0.00023
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.694C>T (p.Arg232Cys) rs138823792 0.00011
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_004937.3(CTNS):c.556A>C (p.Ile186Leu) rs548772179 0.00009
NM_004937.3(CTNS):c.624C>T (p.Phe208=) rs771057130 0.00009
NM_004937.3(CTNS):c.684C>T (p.Arg228=) rs762346133 0.00009
NM_004937.3(CTNS):c.356G>A (p.Arg119His) rs375970075 0.00008
NM_004937.3(CTNS):c.461+16G>A rs201772152 0.00008
NM_004937.3(CTNS):c.633C>T (p.His211=) rs150428029 0.00008
NM_004937.3(CTNS):c.80C>A (p.Thr27Asn) rs576315457 0.00007
NM_004937.3(CTNS):c.29T>C (p.Ile10Thr) rs754092691 0.00006
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser) rs200313254 0.00006
NM_004937.3(CTNS):c.487G>A (p.Val163Met) rs200818208 0.00006
NM_004937.3(CTNS):c.648G>A (p.Thr216=) rs772591288 0.00006
NM_004937.3(CTNS):c.830C>T (p.Thr277Met) rs757009591 0.00006
NM_004937.3(CTNS):c.139C>T (p.Arg47Trp) rs201153770 0.00005
NM_004937.3(CTNS):c.225+19C>T rs550960394 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.600C>T (p.Pro200=) rs577044481 0.00005
NM_004937.3(CTNS):c.628C>T (p.Leu210=) rs531995684 0.00005
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) rs121908127 0.00004
NM_004937.3(CTNS):c.1035C>T (p.Phe345=) rs149007536 0.00004
NM_004937.3(CTNS):c.1038C>T (p.Asp346=) rs771450572 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.510C>T (p.Phe170=) rs747488464 0.00004
NM_004937.3(CTNS):c.562-16C>T rs776712980 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_004937.3(CTNS):c.635C>T (p.Ala212Val) rs776658046 0.00004
NM_004937.3(CTNS):c.66A>C (p.Ser22=) rs748125070 0.00004
NM_004937.3(CTNS):c.682-9C>T rs943621505 0.00004
NM_004937.3(CTNS):c.69C>T (p.Ser23=) rs142642362 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.853-5C>T rs979289719 0.00004
NM_004937.3(CTNS):c.921C>T (p.Thr307=) rs117654723 0.00004
NM_004937.3(CTNS):c.970+5G>A rs753451110 0.00004
NM_004937.3(CTNS):c.117G>A (p.Ser39=) rs765428193 0.00003
NM_004937.3(CTNS):c.461+8C>T rs368822078 0.00003
NM_004937.3(CTNS):c.621C>T (p.Phe207=) rs749428707 0.00003
NM_004937.3(CTNS):c.726G>C (p.Val242=) rs777045218 0.00003
NM_004937.3(CTNS):c.831G>T (p.Thr277=) rs533147998 0.00003
NM_004937.3(CTNS):c.951C>T (p.Phe317=) rs770096901 0.00003
NM_004937.3(CTNS):c.141-4A>C rs1437667230 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.61+20G>A rs760019018 0.00002
NM_004937.3(CTNS):c.642C>G (p.Val214=) rs760843675 0.00002
NM_004937.3(CTNS):c.759C>T (p.Ile253=) rs778758718 0.00002
NM_004937.3(CTNS):c.870C>T (p.Tyr290=) rs776842972 0.00002
NM_004937.3(CTNS):c.1008T>G (p.Phe336Leu) rs762561354 0.00001
NM_004937.3(CTNS):c.1014C>T (p.Leu338=) rs766085355 0.00001
NM_004937.3(CTNS):c.1020C>G (p.Val340=) rs759909683 0.00001
NM_004937.3(CTNS):c.102G>A (p.Leu34=) rs2075871217 0.00001
NM_004937.3(CTNS):c.1080A>G (p.Arg360=) rs1244220520 0.00001
NM_004937.3(CTNS):c.1089T>C (p.Tyr363=) rs371237992 0.00001
NM_004937.3(CTNS):c.140G>A (p.Arg47Gln) rs745744798 0.00001
NM_004937.3(CTNS):c.141-6C>T rs777132924 0.00001
NM_004937.3(CTNS):c.207C>T (p.Ile69=) rs765304748 0.00001
NM_004937.3(CTNS):c.225+9C>A rs779694812 0.00001
NM_004937.3(CTNS):c.270A>T (p.Thr90=) rs754247532 0.00001
NM_004937.3(CTNS):c.333G>A (p.Pro111=) rs755169805 0.00001
NM_004937.3(CTNS):c.341G>A (p.Arg114His) rs559362332 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.39C>T (p.Pro13=) rs370068809 0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.442A>T (p.Met148Leu) rs779895948 0.00001
NM_004937.3(CTNS):c.462-10C>A rs765481486 0.00001
NM_004937.3(CTNS):c.462-10C>T rs765481486 0.00001
NM_004937.3(CTNS):c.525A>G (p.Val175=) rs1040347769 0.00001
NM_004937.3(CTNS):c.535G>A (p.Gly179Ser) rs752632797 0.00001
NM_004937.3(CTNS):c.588C>T (p.Asn196=) rs757955245 0.00001
NM_004937.3(CTNS):c.597C>T (p.Asn199=) rs1325554729 0.00001
NM_004937.3(CTNS):c.5T>C (p.Ile2Thr) rs768188337 0.00001
NM_004937.3(CTNS):c.609C>T (p.Ser203=) rs200273011 0.00001
NM_004937.3(CTNS):c.61+2T>C rs767289120 0.00001
NM_004937.3(CTNS):c.61+7T>C rs762701585 0.00001
NM_004937.3(CTNS):c.612C>T (p.Asn204=) rs200170842 0.00001
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn) rs113994208 0.00001
NM_004937.3(CTNS):c.615C>T (p.Asp205=) rs756137690 0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) rs768600603 0.00001
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601 0.00001
NM_004937.3(CTNS):c.660C>T (p.Ile220=) rs369227591 0.00001
NM_004937.3(CTNS):c.668del (p.Cys223fs) rs770145986 0.00001
NM_004937.3(CTNS):c.681+1G>A rs749317721 0.00001
NM_004937.3(CTNS):c.681+7C>A rs757360314 0.00001
NM_004937.3(CTNS):c.681+9A>T rs1800531 0.00001
NM_004937.3(CTNS):c.682-8G>A rs759116689 0.00001
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys) rs764538705 0.00001
NM_004937.3(CTNS):c.714C>T (p.Ile238=) rs372330647 0.00001
NM_004937.3(CTNS):c.720C>T (p.Phe240=) rs771577860 0.00001
NM_004937.3(CTNS):c.729C>T (p.Leu243=) rs762142619 0.00001
NM_004937.3(CTNS):c.732G>A (p.Ala244=) rs199518474 0.00001
NM_004937.3(CTNS):c.744A>G (p.Ala248=) rs767702551 0.00001
NM_004937.3(CTNS):c.768A>G (p.Ala256=) rs746564292 0.00001
NM_004937.3(CTNS):c.783G>A (p.Thr261=) rs377053292 0.00001
NM_004937.3(CTNS):c.789G>A (p.Leu263=) rs773808648 0.00001
NM_004937.3(CTNS):c.792G>A (p.Gln264=) rs148662747 0.00001
NM_004937.3(CTNS):c.822C>T (p.Leu274=) rs150773117 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.855C>G (p.Ala285=) rs1425996808 0.00001
NM_004937.3(CTNS):c.879C>T (p.Ser293=) rs767558679 0.00001
NM_004937.3(CTNS):c.885G>A (p.Glu295=) rs752243433 0.00001
NM_004937.3(CTNS):c.897T>C (p.Ile299=) rs199824920 0.00001
NM_004937.3(CTNS):c.903C>T (p.Asn301=) rs757595884 0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931 0.00001
NM_004937.3(CTNS):c.966C>T (p.Asn322=) rs767301567 0.00001
NM_004937.3(CTNS):c.970+14C>T rs756853653 0.00001
NM_004937.3(CTNS):c.971-8G>A rs777822023 0.00001
NM_004937.3(CTNS):c.981G>A (p.Thr327=) rs779967932 0.00001
NM_004937.3(CTNS):c.990C>T (p.Phe330=) rs544777200 0.00001
NC_000017.10:g.(?_3539712)_(3543571_?)del
NC_000017.10:g.(?_3539712)_(3552235_?)del
NC_000017.10:g.(?_3543501)_(3543581_?)del
NC_000017.10:g.(?_3543501)_(3552245_?)del
NC_000017.10:g.(?_3550728)_(3550826_?)del
NC_000017.10:g.(?_3558272)_(3560109_?)del
NC_000017.11:g.(?_3647424)_(3648951_?)del
NC_000017.11:g.(?_3647434)_(3648941_?)del
NC_000017.11:g.(?_3647444)_(3658175_?)del
NC_000017.11:g.(?_3654988)_(3655362_?)del
NC_000017.11:g.(?_3657995)_(3660744_?)del
NC_000017.11:g.3654998del
NC_000017.11:g.3659858del rs2142981161
NC_000017.11:g.3660238_3660245del
NM_004937.3(CTNS):c.1000del (p.Thr334fs) rs2142982656
NM_004937.3(CTNS):c.1002C>T (p.Thr334=)
NM_004937.3(CTNS):c.1007T>A (p.Phe336Tyr)
NM_004937.3(CTNS):c.1007T>C (p.Phe336Ser)
NM_004937.3(CTNS):c.1014C>G (p.Leu338=)
NM_004937.3(CTNS):c.1020C>T (p.Val340=) rs759909683
NM_004937.3(CTNS):c.1029C>A (p.Ile343=) rs147428183
NM_004937.3(CTNS):c.1029C>T (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.1041C>G (p.Val347=) rs779369414
NM_004937.3(CTNS):c.1041C>T (p.Val347=) rs779369414
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.1053C>T (p.Ile351=) rs2142982938
NM_004937.3(CTNS):c.1059C>T (p.His353=)
NM_004937.3(CTNS):c.105G>A (p.Glu35=) rs2150904680
NM_004937.3(CTNS):c.1077G>A (p.Lys359=) rs2142983047
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu) rs560868487
NM_004937.3(CTNS):c.1086G>A (p.Gly362=) rs1055176574
NM_004937.3(CTNS):c.1086G>T (p.Gly362=)
NM_004937.3(CTNS):c.108C>G (p.Asn36Lys)
NM_004937.3(CTNS):c.117G>C (p.Ser39=) rs765428193
NM_004937.3(CTNS):c.117G>T (p.Ser39=)
NM_004937.3(CTNS):c.122A>C (p.Asn41Thr)
NM_004937.3(CTNS):c.12T>C (p.Asn4=) rs550375830
NM_004937.3(CTNS):c.132C>T (p.Leu44=) rs756058217
NM_004937.3(CTNS):c.135C>A (p.Thr45=)
NM_004937.3(CTNS):c.140+10T>C
NM_004937.3(CTNS):c.140+10_140+11del rs755167662
NM_004937.3(CTNS):c.140+11G>A
NM_004937.3(CTNS):c.140+12G>C
NM_004937.3(CTNS):c.140+15C>T rs2150904807
NM_004937.3(CTNS):c.140+19C>T
NM_004937.3(CTNS):c.140+1G>A
NM_004937.3(CTNS):c.140+1G>T rs1567701415
NM_004937.3(CTNS):c.140+1del rs2150904759
NM_004937.3(CTNS):c.140+20G>A
NM_004937.3(CTNS):c.140+2T>C rs2075872773
NM_004937.3(CTNS):c.140+6T>C
NM_004937.3(CTNS):c.140+9C>T rs1567701450
NM_004937.3(CTNS):c.141-14C>T
NM_004937.3(CTNS):c.141-1G>A rs2075906916
NM_004937.3(CTNS):c.141-20T>C
NM_004937.3(CTNS):c.141-24T>C
NM_004937.3(CTNS):c.141-24_141-18del
NM_004937.3(CTNS):c.141-4A>G rs1437667230
NM_004937.3(CTNS):c.141-8C>T rs768912772
NM_004937.3(CTNS):c.150A>G (p.Leu50=)
NM_004937.3(CTNS):c.152_153insCT (p.Ala52fs) rs2150906974
NM_004937.3(CTNS):c.156A>G (p.Ala52=) rs1597623923
NM_004937.3(CTNS):c.159C>T (p.Thr53=) rs769818124
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)
NM_004937.3(CTNS):c.162G>C (p.Leu54=)
NM_004937.3(CTNS):c.171T>G (p.Thr57=)
NM_004937.3(CTNS):c.180C>T (p.Ile60=)
NM_004937.3(CTNS):c.183A>G (p.Thr61=)
NM_004937.3(CTNS):c.188G>T (p.Arg63Leu)
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.191C>G (p.Ser64Cys) rs1454743016
NM_004937.3(CTNS):c.198T>C (p.Asn66=)
NM_004937.3(CTNS):c.1A>T (p.Met1Leu) rs2075650925
NM_004937.3(CTNS):c.204T>C (p.Thr68=)
NM_004937.3(CTNS):c.204del (p.Ile69fs)
NM_004937.3(CTNS):c.206_210del (p.Ile69fs) rs879758262
NM_004937.3(CTNS):c.219C>G (p.Pro73=)
NM_004937.3(CTNS):c.219C>T (p.Pro73=) rs2150907083
NM_004937.3(CTNS):c.221A>G (p.Asp74Gly)
NM_004937.3(CTNS):c.222T>C (p.Asp74=) rs1597624144
NM_004937.3(CTNS):c.225+10C>A rs2150907128
NM_004937.3(CTNS):c.225+12A>G
NM_004937.3(CTNS):c.225+1G>A rs1555561049
NM_004937.3(CTNS):c.225+20G>A
NM_004937.3(CTNS):c.225+3A>G rs2075909295
NM_004937.3(CTNS):c.225+3A>T
NM_004937.3(CTNS):c.225+5G>A
NM_004937.3(CTNS):c.225+5_225+6delinsCC rs786204541
NM_004937.3(CTNS):c.225+5_225+8del rs1555561048
NM_004937.3(CTNS):c.225+7A>T
NM_004937.3(CTNS):c.225+9C>G
NM_004937.3(CTNS):c.226-11C>T
NM_004937.3(CTNS):c.226-13dup
NM_004937.3(CTNS):c.226-14A>C
NM_004937.3(CTNS):c.226-15C>T
NM_004937.3(CTNS):c.226-1G>C
NM_004937.3(CTNS):c.226-6dup
NM_004937.3(CTNS):c.226-7C>G
NM_004937.3(CTNS):c.226-7C>T rs2076091750
NM_004937.3(CTNS):c.226-8C>T rs2150918919
NM_004937.3(CTNS):c.22A>G (p.Ile8Val)
NM_004937.3(CTNS):c.246G>A (p.Val82=) rs2150918993
NM_004937.3(CTNS):c.248C>T (p.Thr83Ile) rs1295370570
NM_004937.3(CTNS):c.257_258del (p.Ser86fs) rs879255614
NM_004937.3(CTNS):c.274C>T (p.Gln92Ter) rs2150919035
NM_004937.3(CTNS):c.278A>G (p.Asn93Ser)
NM_004937.3(CTNS):c.27del (p.Phe9fs) rs2150888913
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
NM_004937.3(CTNS):c.288A>G (p.Gln96=)
NM_004937.3(CTNS):c.289C>T (p.Leu97Phe)
NM_004937.3(CTNS):c.292dup (p.Thr98fs) rs786204434
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter) rs376042415
NM_004937.3(CTNS):c.300T>C (p.Tyr100=) rs376042415
NM_004937.3(CTNS):c.306T>C (p.His102=) rs2076094603
NM_004937.3(CTNS):c.30C>A (p.Ile10=) rs2075651822
NM_004937.3(CTNS):c.311A>G (p.Asn104Ser)
NM_004937.3(CTNS):c.314_317del (p.His105fs)
NM_004937.3(CTNS):c.323del (p.Gln108fs) rs879255615
NM_004937.3(CTNS):c.328G>A (p.Gly110Ser)
NM_004937.3(CTNS):c.329+10C>T rs2150919178
NM_004937.3(CTNS):c.329+13C>T
NM_004937.3(CTNS):c.329+14_329+15del
NM_004937.3(CTNS):c.330-16C>T
NM_004937.3(CTNS):c.330-18C>T
NM_004937.3(CTNS):c.330-20G>A
NM_004937.3(CTNS):c.330-9_330-7del rs2150919428
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.354C>T (p.Ile118=) rs2150919502
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.366C>T (p.Ala122=)
NM_004937.3(CTNS):c.372C>T (p.Ser124=)
NM_004937.3(CTNS):c.375C>T (p.Ile125=) rs1277785045
NM_004937.3(CTNS):c.376A>G (p.Ile126Val)
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_004937.3(CTNS):c.387G>A (p.Val129=) rs2150919602
NM_004937.3(CTNS):c.399C>G (p.Ile133Met)
NM_004937.3(CTNS):c.405dup (p.Val136fs)
NM_004937.3(CTNS):c.40C>T (p.Leu14=)
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer) rs1555558099
NM_004937.3(CTNS):c.410C>A (p.Ala137Asp) rs1413852868
NM_004937.3(CTNS):c.411C>T (p.Ala137=)
NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_004937.3(CTNS):c.426C>T (p.Phe142=) rs2150919725
NM_004937.3(CTNS):c.428A>G (p.Tyr143Cys)
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter) rs1597647930
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter) rs2076101632
NM_004937.3(CTNS):c.441C>T (p.Ile147=) rs2150919757
NM_004937.3(CTNS):c.447T>C (p.Asn149=)
NM_004937.3(CTNS):c.449G>A (p.Trp150Ter) rs2076101974
NM_004937.3(CTNS):c.453G>A (p.Arg151=) rs2150919797
NM_004937.3(CTNS):c.455G>A (p.Arg152Gln)
NM_004937.3(CTNS):c.460A>C (p.Ser154Arg)
NM_004937.3(CTNS):c.461+13G>A
NM_004937.3(CTNS):c.461+15C>T
NM_004937.3(CTNS):c.461+16G>C
NM_004937.3(CTNS):c.461+17T>C
NM_004937.3(CTNS):c.461+19T>A
NM_004937.3(CTNS):c.461+19T>C
NM_004937.3(CTNS):c.461+20G>A
NM_004937.3(CTNS):c.462-12C>T
NM_004937.3(CTNS):c.462-17C>T
NM_004937.3(CTNS):c.462-47_462-7del
NM_004937.3(CTNS):c.462-6C>T
NM_004937.3(CTNS):c.462-8C>A
NM_004937.3(CTNS):c.462-95_462-19del
NM_004937.3(CTNS):c.462-9C>T
NM_004937.3(CTNS):c.465C>T (p.Val155=)
NM_004937.3(CTNS):c.474G>A (p.Leu158=)
NM_004937.3(CTNS):c.477C>T (p.Ser159=) rs2150922529
NM_004937.3(CTNS):c.486C>T (p.Phe162=) rs1335640588
NM_004937.3(CTNS):c.489G>C (p.Val163=) rs2150922571
NM_004937.3(CTNS):c.48C>T (p.Leu16=)
NM_004937.3(CTNS):c.49G>A (p.Val17Ile)
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp) rs121908126
NM_004937.3(CTNS):c.513G>A (p.Val171=)
NM_004937.3(CTNS):c.514G>T (p.Ala172Ser)
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys) rs1555563446
NM_004937.3(CTNS):c.525A>C (p.Val175=)
NM_004937.3(CTNS):c.531C>T (p.Asn177=) rs2150922708
NM_004937.3(CTNS):c.532A>G (p.Ile178Val)
NM_004937.3(CTNS):c.537C>G (p.Gly179=) rs1033509163
NM_004937.3(CTNS):c.537C>T (p.Gly179=)
NM_004937.3(CTNS):c.539_551del (p.Leu180fs) rs2150922730
NM_004937.3(CTNS):c.540C>T (p.Leu180=)
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg) rs764168489
NM_004937.3(CTNS):c.545G>A (p.Trp182Ter)
NM_004937.3(CTNS):c.546G>T (p.Trp182Cys) rs2150922764
NM_004937.3(CTNS):c.552C>T (p.Pro184=) rs2150922782
NM_004937.3(CTNS):c.555C>T (p.Tyr185=)
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.561+12C>T
NM_004937.3(CTNS):c.561+15G>A
NM_004937.3(CTNS):c.561+18C>T
NM_004937.3(CTNS):c.561+1del rs786204667
NM_004937.3(CTNS):c.561+3A>G
NM_004937.3(CTNS):c.561+7C>G rs1230869706
NM_004937.3(CTNS):c.561+7C>T
NM_004937.3(CTNS):c.561+8C>G rs2150922813
NM_004937.3(CTNS):c.561+8C>T
NM_004937.3(CTNS):c.562-15C>T
NM_004937.3(CTNS):c.562-17T>C
NM_004937.3(CTNS):c.562-18C>A
NM_004937.3(CTNS):c.562-1G>C
NM_004937.3(CTNS):c.562-4A>T rs761366500
NM_004937.3(CTNS):c.562-8C>T rs1194962259
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter) rs1597654770
NM_004937.3(CTNS):c.573C>T (p.Leu191=)
NM_004937.3(CTNS):c.588C>A (p.Asn196Lys)
NM_004937.3(CTNS):c.592G>T (p.Val198Leu)
NM_004937.3(CTNS):c.603G>C (p.Val201=) rs912410408
NM_004937.3(CTNS):c.606C>T (p.Asn202=) rs2150923073
NM_004937.3(CTNS):c.61+10G>T
NM_004937.3(CTNS):c.61+17C>G
NM_004937.3(CTNS):c.61+19C>T
NM_004937.3(CTNS):c.61+1G>T rs1555558116
NM_004937.3(CTNS):c.61+5G>A rs1407498555
NM_004937.3(CTNS):c.61+8T>G rs2150889028
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del) rs760256854
NM_004937.3(CTNS):c.616G>A (p.Val206Ile)
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.62-14T>G
NM_004937.3(CTNS):c.62-19T>C
NM_004937.3(CTNS):c.62-1G>A rs1597619719
NM_004937.3(CTNS):c.62-1G>T rs1597619719
NM_004937.3(CTNS):c.62-5T>C
NM_004937.3(CTNS):c.62-8C>T rs2150904561
NM_004937.3(CTNS):c.636G>A (p.Ala212=)
NM_004937.3(CTNS):c.645C>T (p.Leu215=)
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
NM_004937.3(CTNS):c.649C>T (p.Leu217=)
NM_004937.3(CTNS):c.64T>A (p.Ser22Thr)
NM_004937.3(CTNS):c.651G>A (p.Leu217=) rs762581003
NM_004937.3(CTNS):c.651G>C (p.Leu217=) rs762581003
NM_004937.3(CTNS):c.666G>A (p.Gln222=) rs2076159145
NM_004937.3(CTNS):c.673C>T (p.Leu225=)
NM_004937.3(CTNS):c.675G>A (p.Leu225=)
NM_004937.3(CTNS):c.677A>G (p.Tyr226Cys)
NM_004937.3(CTNS):c.681+11C>T
NM_004937.3(CTNS):c.681+12C>G
NM_004937.3(CTNS):c.681+15G>T
NM_004937.3(CTNS):c.681+16dup
NM_004937.3(CTNS):c.681+17C>T
NM_004937.3(CTNS):c.681+19C>A
NM_004937.3(CTNS):c.681+22del
NM_004937.3(CTNS):c.681+2dup
NM_004937.3(CTNS):c.681+5G>A
NM_004937.3(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_004937.3(CTNS):c.681G>C (p.Glu227Asp)
NM_004937.3(CTNS):c.682-10T>A
NM_004937.3(CTNS):c.682-11C>T
NM_004937.3(CTNS):c.682-16C>T
NM_004937.3(CTNS):c.682-1G>T rs1057516771
NM_004937.3(CTNS):c.682-2A>C
NM_004937.3(CTNS):c.682-3del
NM_004937.3(CTNS):c.682-3dup rs2150924916
NM_004937.3(CTNS):c.682-5C>A
NM_004937.3(CTNS):c.682-6C>T
NM_004937.3(CTNS):c.683G>T (p.Arg228Leu) rs754201055
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.686_699del (p.Gly229fs)
NM_004937.3(CTNS):c.690C>G (p.Gly230=)
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys) rs1463026342
NM_004937.3(CTNS):c.696C>G (p.Arg232=) rs529381598
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.70G>A (p.Val24Ile)
NM_004937.3(CTNS):c.711C>T (p.Ala237=)
NM_004937.3(CTNS):c.715G>A (p.Gly239Ser)
NM_004937.3(CTNS):c.721C>T (p.Leu241=) rs775072561
NM_004937.3(CTNS):c.722T>C (p.Leu241Pro)
NM_004937.3(CTNS):c.729C>G (p.Leu243=) rs762142619
NM_004937.3(CTNS):c.732G>T (p.Ala244=) rs199518474
NM_004937.3(CTNS):c.735G>A (p.Trp245Ter) rs2150925108
NM_004937.3(CTNS):c.738C>G (p.Leu246=) rs2076197055
NM_004937.3(CTNS):c.741C>T (p.Phe247=)
NM_004937.3(CTNS):c.751A>G (p.Thr251Ala)
NM_004937.3(CTNS):c.751_752del (p.Thr251fs)
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu) rs1567713916
NM_004937.3(CTNS):c.768dup (p.Val257fs) rs1567713938
NM_004937.3(CTNS):c.76C>T (p.Leu26Phe)
NM_004937.3(CTNS):c.771_793del (p.Gly258fs) rs759623796
NM_004937.3(CTNS):c.777G>A (p.Val259=)
NM_004937.3(CTNS):c.783G>T (p.Thr261=)
NM_004937.3(CTNS):c.78C>G (p.Leu26=)
NM_004937.3(CTNS):c.790C>T (p.Gln264Ter) rs2076198741
NM_004937.3(CTNS):c.790_791del (p.Gln264fs) rs2076198775
NM_004937.3(CTNS):c.794T>C (p.Phe265Ser)
NM_004937.3(CTNS):c.798C>A (p.Leu266=) rs1567714017
NM_004937.3(CTNS):c.798C>T (p.Leu266=) rs1567714017
NM_004937.3(CTNS):c.809C>T (p.Ser270Phe) rs2150925336
NM_004937.3(CTNS):c.810C>G (p.Ser270=)
NM_004937.3(CTNS):c.814A>C (p.Ile272Leu)
NM_004937.3(CTNS):c.817A>G (p.Lys273Glu) rs2076199463
NM_004937.3(CTNS):c.819G>A (p.Lys273=) rs2150925362
NM_004937.3(CTNS):c.81T>C (p.Thr27=)
NM_004937.3(CTNS):c.825A>G (p.Ala275=) rs904979100
NM_004937.3(CTNS):c.829A>G (p.Thr277Ala)
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.82_83del (p.Val28fs) rs2150904623
NM_004937.3(CTNS):c.831G>A (p.Thr277=) rs533147998
NM_004937.3(CTNS):c.834G>C (p.Leu278=)
NM_004937.3(CTNS):c.834G>T (p.Leu278=) rs139519275
NM_004937.3(CTNS):c.837C>T (p.Val279=) rs779909823
NM_004937.3(CTNS):c.838A>C (p.Lys280Gln) rs2076200184
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg) rs2150925451
NM_004937.3(CTNS):c.841dup (p.Tyr281fs) rs1411094034
NM_004937.3(CTNS):c.843T>C (p.Tyr281=) rs2076200273
NM_004937.3(CTNS):c.852+10G>A
NM_004937.3(CTNS):c.852+14C>G
NM_004937.3(CTNS):c.852+14C>T
NM_004937.3(CTNS):c.852+14_852+15del
NM_004937.3(CTNS):c.852+14_852+34del
NM_004937.3(CTNS):c.852+17G>A
NM_004937.3(CTNS):c.852+19T>A
NM_004937.3(CTNS):c.852+1G>A rs2150925483
NM_004937.3(CTNS):c.852+20C>T
NM_004937.3(CTNS):c.853-10_853-7del rs1198120476
NM_004937.3(CTNS):c.853-11G>A
NM_004937.3(CTNS):c.853-13C>G
NM_004937.3(CTNS):c.853-16C>T
NM_004937.3(CTNS):c.853-18_853-7del
NM_004937.3(CTNS):c.853-1G>A rs1555564588
NM_004937.3(CTNS):c.853-6G>T rs775425630
NM_004937.3(CTNS):c.853-8T>C
NM_004937.3(CTNS):c.858C>T (p.Tyr286=)
NM_004937.3(CTNS):c.85_86del (p.Pro29fs)
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.878G>A (p.Ser293Asn)
NM_004937.3(CTNS):c.88C>T (p.Pro30Ser)
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter) rs917630768
NM_004937.3(CTNS):c.900C>T (p.Gly300=)
NM_004937.3(CTNS):c.902A>G (p.Asn301Ser)
NM_004937.3(CTNS):c.909C>T (p.Leu303=) rs1252160181
NM_004937.3(CTNS):c.90T>C (p.Pro30=) rs2075870364
NM_004937.3(CTNS):c.911T>C (p.Leu304Pro)
NM_004937.3(CTNS):c.912G>A (p.Leu304=)
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly) rs1263951539
NM_004937.3(CTNS):c.918C>T (p.Phe306=)
NM_004937.3(CTNS):c.922G>C (p.Gly308Arg) rs746307931
NM_004937.3(CTNS):c.923G>T (p.Gly308Val)
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004937.3(CTNS):c.930C>T (p.Ser310=) rs1262456716
NM_004937.3(CTNS):c.936C>T (p.Ser312=)
NM_004937.3(CTNS):c.936_945del (p.Ser312fs)
NM_004937.3(CTNS):c.938T>A (p.Leu313His)
NM_004937.3(CTNS):c.93C>T (p.Val31=) rs772569260
NM_004937.3(CTNS):c.943C>T (p.Gln315Ter)
NM_004937.3(CTNS):c.948G>A (p.Met316Ile)
NM_004937.3(CTNS):c.954C>T (p.Leu318=) rs2142981648
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys) rs121908128
NM_004937.3(CTNS):c.969C>T (p.Asn323=) rs121908128
NM_004937.3(CTNS):c.970+10C>T
NM_004937.3(CTNS):c.970+15_970+21del
NM_004937.3(CTNS):c.970+9G>A rs1159271531
NM_004937.3(CTNS):c.970+9G>T
NM_004937.3(CTNS):c.971-12G>A rs375952052
NM_004937.3(CTNS):c.971-12G>C
NM_004937.3(CTNS):c.971-13C>T
NM_004937.3(CTNS):c.971-13dup
NM_004937.3(CTNS):c.971-15C>T
NM_004937.3(CTNS):c.971-16C>G
NM_004937.3(CTNS):c.971-16C>T
NM_004937.3(CTNS):c.971-17C>T
NM_004937.3(CTNS):c.971-6T>G
NM_004937.3(CTNS):c.971-8_971-6del
NM_004937.3(CTNS):c.972C>T (p.Asp324=)
NM_004937.3(CTNS):c.975G>A (p.Gln325=)
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.981G>T (p.Thr327=)
NM_004937.3(CTNS):c.982C>G (p.Leu328Val)
NM_004937.3(CTNS):c.985A>G (p.Ile329Val)
NM_004937.3(CTNS):c.987C>T (p.Ile329=) rs2142982610
NM_004937.3(CTNS):c.999A>G (p.Pro333=)
NM_004937.3(CTNS):c.99G>A (p.Lys33=) rs2150904661

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.