ClinVar Miner

List of variants in gene CTNS reported as uncertain significance for Cystinosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
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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.*1107G>A rs563539494
NM_001031681.2(CTNS):c.*1136T>C rs886052879
NM_001031681.2(CTNS):c.*1304C>T rs117079843
NM_001031681.2(CTNS):c.*1315G>A rs572393960
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.*1592dup rs397856854
NM_001031681.2(CTNS):c.*1671G>A rs184828971
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.*2112C>G rs781672689
NM_001031681.2(CTNS):c.*2127G>A rs886052884
NM_001031681.2(CTNS):c.*212T>C rs886052869
NM_001031681.2(CTNS):c.*289G>T rs886052870
NM_001031681.2(CTNS):c.*482C>T rs146131305
NM_001031681.2(CTNS):c.*506G>C rs886052871
NM_001031681.2(CTNS):c.*577C>T rs140127855
NM_001031681.2(CTNS):c.*659_*665delinsTGAAGCTGTC rs886052872
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.*760C>T rs886052874
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+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.-353G>A rs373260107
NM_001031681.2(CTNS):c.-374C>T rs530371788
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.116C>T (p.Ser39Leu) rs144751390
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.407T>G (p.Val136Gly) rs764372178
NM_001031681.2(CTNS):c.444G>A (p.Met148Ile) rs199977728
NM_001031681.2(CTNS):c.462-7C>A rs189632527
NM_001031681.2(CTNS):c.561+4C>T rs111256750
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.82G>C (p.Val28Leu) rs759921102
NM_001031681.2(CTNS):c.853-15G>A rs376050426
NM_001031681.2(CTNS):c.94G>A (p.Val32Ile) rs146684402
NM_001031681.2(CTNS):c.970G>A (p.Asp324Asn) rs140326392

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