List of variants reported as benign for Ocular cystinosis

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

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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_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_004937.2(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.*851G>A	rs75192283	0.01649
NM_004937.3(CTNS):c.*2127G>A	rs72835828	0.01197
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.356G>A (p.Arg119His)	rs375970075	0.00008
NM_004937.3(CTNS):c.*1128G>A	rs115643745

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