ClinVar Miner

List of variants reported as benign for cystinosis

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.*738T>G rs224562 0.99537
NM_004937.3(CTNS):c.329+22C>G rs459613 0.88549
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_080704.4(TRPV1):c.-34+7395T>C rs161380 0.83591
NM_004937.3(CTNS):c.*2383dup rs397702352 0.82623
NM_004937.3(CTNS):c.*2306T>C rs161397 0.71652
NM_004937.3(CTNS):c.*1440A>G rs161398 0.67203
NM_004937.3(CTNS):c.461+52G>A rs467277 0.51389
NM_004937.3(CTNS):c.461+49A>G rs457419 0.35954
NM_004937.3(CTNS):c.141-103G>A rs222778 0.35912
NM_004937.3(CTNS):c.970+70C>T rs222753 0.34692
NM_004937.3(CTNS):c.*2569C>T rs7093 0.33888
NM_004937.3(CTNS):c.*737T>A rs222754 0.24184
NM_004937.3(CTNS):c.*405G>A rs760273 0.21386
NM_004937.3(CTNS):c.*555T>C rs1048646 0.19518
NM_004937.3(CTNS):c.*572A>G rs3826493 0.19518
NM_004937.3(CTNS):c.*627T>C rs1048647 0.19492
NM_004937.3(CTNS):c.*631T>C rs1048648 0.19488
NM_004937.3(CTNS):c.*300C>G rs2873624 0.19455
NM_004937.3(CTNS):c.*715C>T rs1048649 0.19427
NM_004937.3(CTNS):c.*421T>C rs760274 0.19404
NM_004937.3(CTNS):c.*410A>G rs3826496 0.19387
NM_004937.3(CTNS):c.*1025A>G rs1048674 0.19022
NM_004937.3(CTNS):c.*1024C>T rs1048673 0.19015
NM_004937.3(CTNS):c.*1116C>T rs1048682 0.18891
NM_004937.3(CTNS):c.*1152A>G rs2235104 0.18705
NM_004937.3(CTNS):c.461+54G>A rs12938401 0.15247
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_004937.2(CTNS):c.-313G>A rs17707869 0.13396
NM_004937.3(CTNS):c.*2546G>C rs1128109 0.13235
NM_004937.3(CTNS):c.*2550G>A rs1128098 0.13232
NM_004937.3(CTNS):c.*527G>A rs79668190 0.06278
NM_004937.2(CTNS):c.-520T>C rs111977802 0.06010
NM_004937.3(CTNS):c.-634C>T rs138913261 0.05988
NM_004937.2(CTNS):c.-458C>T rs11657606 0.05976
NM_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
NM_004937.3(CTNS):c.*1665A>G rs112317698 0.04756
NM_004937.3(CTNS):c.*1866C>T rs111430685 0.03936
NM_004937.3(CTNS):c.*1633C>G rs112032534 0.03822
NM_004937.3(CTNS):c.*1595C>T rs112299490 0.03812
NM_004937.3(CTNS):c.*2115G>A rs77196744 0.03574
NM_004937.3(CTNS):c.970+15G>A rs76153698 0.03340
NM_004937.3(CTNS):c.-230+11A>G rs116000219 0.03310
NM_004937.3(CTNS):c.*1578C>G rs142813435 0.02513
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_004937.3(CTNS):c.*851G>A rs75192283 0.01649
NM_004937.3(CTNS):c.-635G>C rs112140949 0.01378
NM_004937.3(CTNS):c.*2127G>A rs72835828 0.01197
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824 0.00664
NM_004937.3(CTNS):c.*1206T>C rs115239409 0.00577
NM_004937.3(CTNS):c.*1165C>T rs112915401 0.00534
NM_004937.3(CTNS):c.*1117G>A rs78833685 0.00271
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_004937.3(CTNS):c.327C>T (p.Thr109=) rs150554216 0.00141
NM_004937.3(CTNS):c.834G>A (p.Leu278=) rs139519275 0.00094
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.356G>A (p.Arg119His) rs375970075 0.00008
NM_004937.3(CTNS):c.461+16G>A rs201772152 0.00008
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.822C>T (p.Leu274=) rs150773117 0.00001
NM_004937.3(CTNS):c.*1128G>A rs115643745
NM_004937.3(CTNS):c.*1957del rs397856854
NM_004937.3(CTNS):c.681+22del
NM_004937.3(CTNS):c.682-3del
NM_004937.3(CTNS):c.682-3dup rs2150924916
NM_004937.3(CTNS):c.971-13dup

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