ClinVar Miner

List of variants reported as likely benign for juvenile nephropathic cystinosis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 312
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.461+10del rs377470989 0.00077
NM_004937.3(CTNS):c.695G>A (p.Arg232His) rs142641674 0.00072
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.480C>T (p.Phe160=) rs147565118 0.00012
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.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.225+19C>T rs550960394 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.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.510C>T (p.Phe170=) rs747488464 0.00004
NM_004937.3(CTNS):c.562-16C>T rs776712980 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.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.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.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.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.363C>T (p.Ser121=) rs746463725 0.00001
NM_004937.3(CTNS):c.39C>T (p.Pro13=) rs370068809 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.588C>T (p.Asn196=) rs757955245 0.00001
NM_004937.3(CTNS):c.597C>T (p.Asn199=) rs1325554729 0.00001
NM_004937.3(CTNS):c.609C>T (p.Ser203=) rs200273011 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.615C>T (p.Asp205=) rs756137690 0.00001
NM_004937.3(CTNS):c.660C>T (p.Ile220=) rs369227591 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.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.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.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
NM_004937.3(CTNS):c.1002C>T (p.Thr334=)
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.1041C>G (p.Val347=) rs779369414
NM_004937.3(CTNS):c.1041C>T (p.Val347=) rs779369414
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.117G>C (p.Ser39=) rs765428193
NM_004937.3(CTNS):c.117G>T (p.Ser39=)
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+20G>A
NM_004937.3(CTNS):c.140+9C>T rs1567701450
NM_004937.3(CTNS):c.141-14C>T
NM_004937.3(CTNS):c.141-20T>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.156A>G (p.Ala52=) rs1597623923
NM_004937.3(CTNS):c.159C>T (p.Thr53=) rs769818124
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.198T>C (p.Asn66=)
NM_004937.3(CTNS):c.204T>C (p.Thr68=)
NM_004937.3(CTNS):c.219C>G (p.Pro73=)
NM_004937.3(CTNS):c.219C>T (p.Pro73=) rs2150907083
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+20G>A
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.226-14A>C
NM_004937.3(CTNS):c.226-15C>T
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.246G>A (p.Val82=) rs2150918993
NM_004937.3(CTNS):c.288A>G (p.Gln96=)
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.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.354C>T (p.Ile118=) rs2150919502
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.387G>A (p.Val129=) rs2150919602
NM_004937.3(CTNS):c.40C>T (p.Leu14=)
NM_004937.3(CTNS):c.411C>T (p.Ala137=)
NM_004937.3(CTNS):c.426C>T (p.Phe142=) rs2150919725
NM_004937.3(CTNS):c.441C>T (p.Ile147=) rs2150919757
NM_004937.3(CTNS):c.447T>C (p.Asn149=)
NM_004937.3(CTNS):c.453G>A (p.Arg151=) rs2150919797
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.513G>A (p.Val171=)
NM_004937.3(CTNS):c.525A>C (p.Val175=)
NM_004937.3(CTNS):c.531C>T (p.Asn177=) rs2150922708
NM_004937.3(CTNS):c.537C>G (p.Gly179=) rs1033509163
NM_004937.3(CTNS):c.537C>T (p.Gly179=)
NM_004937.3(CTNS):c.540C>T (p.Leu180=)
NM_004937.3(CTNS):c.552C>T (p.Pro184=) rs2150922782
NM_004937.3(CTNS):c.555C>T (p.Tyr185=)
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+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.562-4A>T rs761366500
NM_004937.3(CTNS):c.562-8C>T rs1194962259
NM_004937.3(CTNS):c.573C>T (p.Leu191=)
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+8T>G rs2150889028
NM_004937.3(CTNS):c.62-14T>G
NM_004937.3(CTNS):c.62-19T>C
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.649C>T (p.Leu217=)
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.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.682-10T>A
NM_004937.3(CTNS):c.682-11C>T
NM_004937.3(CTNS):c.682-16C>T
NM_004937.3(CTNS):c.682-5C>A
NM_004937.3(CTNS):c.682-6C>T
NM_004937.3(CTNS):c.685G>T (p.Gly229Cys) rs200336280
NM_004937.3(CTNS):c.690C>G (p.Gly230=)
NM_004937.3(CTNS):c.696C>G (p.Arg232=) rs529381598
NM_004937.3(CTNS):c.699G>A (p.Val233=) rs2076195866
NM_004937.3(CTNS):c.711C>T (p.Ala237=)
NM_004937.3(CTNS):c.721C>T (p.Leu241=) rs775072561
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.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.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.798C>A (p.Leu266=) rs1567714017
NM_004937.3(CTNS):c.798C>T (p.Leu266=) rs1567714017
NM_004937.3(CTNS):c.810C>G (p.Ser270=)
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.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.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+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.853-6G>T rs775425630
NM_004937.3(CTNS):c.853-8T>C
NM_004937.3(CTNS):c.858C>T (p.Tyr286=)
NM_004937.3(CTNS):c.900C>T (p.Gly300=)
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.912G>A (p.Leu304=)
NM_004937.3(CTNS):c.918C>T (p.Phe306=)
NM_004937.3(CTNS):c.930C>T (p.Ser310=) rs1262456716
NM_004937.3(CTNS):c.936C>T (p.Ser312=)
NM_004937.3(CTNS):c.93C>T (p.Val31=) rs772569260
NM_004937.3(CTNS):c.954C>T (p.Leu318=) rs2142981648
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>C
NM_004937.3(CTNS):c.971-13C>T
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.981G>T (p.Thr327=)
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

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