ClinVar Miner

List of variants in gene CTNS reported as likely benign for Cystinosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
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.*1501C>T rs111430685
NM_001031681.2(CTNS):c.*162G>A rs79668190
NM_001031681.2(CTNS):c.*1750G>A rs77196744
NM_001031681.2(CTNS):c.*190T>C rs1048646
NM_001031681.2(CTNS):c.*207A>G rs3826493
NM_001031681.2(CTNS):c.*262T>C rs1048647
NM_001031681.2(CTNS):c.*266T>C rs1048648
NM_001031681.2(CTNS):c.*350C>T rs1048649
NM_001031681.2(CTNS):c.*40G>A rs760273
NM_001031681.2(CTNS):c.*45A>G rs3826496
NM_001031681.2(CTNS):c.*486G>A rs75192283
NM_001031681.2(CTNS):c.*56T>C rs760274
NM_001031681.2(CTNS):c.*659C>T rs1048673
NM_001031681.2(CTNS):c.*660A>G rs1048674
NM_001031681.2(CTNS):c.*666_*668dup rs1355863772
NM_001031681.2(CTNS):c.*751C>T rs1048682
NM_001031681.2(CTNS):c.*752G>A rs78833685
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.-230+134A>G rs116000219
NM_001031681.2(CTNS):c.-230+40G>A rs17707869
NM_001031681.2(CTNS):c.-335C>T rs11657606
NM_001031681.2(CTNS):c.-397T>C rs111977802
NM_001031681.2(CTNS):c.124G>A (p.Val42Ile) rs35086888
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.970+15G>A rs76153698

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