ClinVar Miner

List of variants studied for Cystinosis

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Minimum conflict level:
ClinVar version:
Total variants: 139
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HGVS dbSNP
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.-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.1008T>G (p.Phe336Leu) rs762561354
NM_001031681.2(CTNS):c.1083G>A (p.Pro361=) rs371189196
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.120del (p.Asn41fs) rs879255616
NM_001031681.2(CTNS):c.124G>A (p.Val42Ile) rs35086888
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.255_256CT[1] (p.Ser86fs) rs879255614
NM_001031681.2(CTNS):c.323del (p.Gln108fs) rs879255615
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.382C>T (p.Gln128Ter) rs550254092
NM_001031681.2(CTNS):c.397A>T (p.Ile133Phe) rs886040970
NM_001031681.2(CTNS):c.407T>G (p.Val136Gly) rs764372178
NM_001031681.2(CTNS):c.416C>T (p.Ser139Phe) rs267606754
NM_001031681.2(CTNS):c.423del (p.Phe142fs) rs1567709909
NM_001031681.2(CTNS):c.444G>A (p.Met148Ile) rs199977728
NM_001031681.2(CTNS):c.462-7C>A rs189632527
NM_001031681.2(CTNS):c.462T>C (p.Ser154=) rs77453839
NM_001031681.2(CTNS):c.504G>A (p.Thr168=) rs1800528
NM_001031681.2(CTNS):c.544T>C (p.Trp182Arg) rs764168489
NM_001031681.2(CTNS):c.561+4C>T rs111256750
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.694C>T (p.Arg232Cys) rs138823792
NM_001031681.2(CTNS):c.695G>A (p.Arg232His) rs142641674
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.82G>C (p.Val28Leu) rs759921102
NM_001031681.2(CTNS):c.853-15G>A rs376050426
NM_001031681.2(CTNS):c.853-2A>G rs1475322504
NM_001031681.2(CTNS):c.870C>G (p.Tyr290Ter) rs776842972
NM_001031681.2(CTNS):c.91dup (p.Val31fs) rs879255613
NM_001031681.2(CTNS):c.922G>A (p.Gly308Arg) rs746307931
NM_001031681.2(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_001031681.2(CTNS):c.94G>A (p.Val32Ile) rs146684402
NM_001031681.2(CTNS):c.970+15G>A rs76153698
NM_001031681.2(CTNS):c.970G>A (p.Asp324Asn) rs140326392
NM_004937.2:c.661insT
NM_014604.4(TAX1BP3):c.*662T>C rs567476347
NM_014604.4(TAX1BP3):c.*717C>T rs534360650
NM_014604.4(TAX1BP3):c.*751G>A rs886052886
NM_014604.4(TAX1BP3):c.*786T>A rs549150113
NM_014604.4(TAX1BP3):c.*795G>A rs548531950
NM_014604.4(TAX1BP3):c.*810G>A rs7093
NM_014604.4(TAX1BP3):c.*829C>T rs1128098
NM_014604.4(TAX1BP3):c.*833C>G rs1128109
NM_014604.4(TAX1BP3):c.*852C>T rs886052885

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