ClinVar Miner

List of variants reported as uncertain significance for Nephropathic cystinosis by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_004937.3(CTNS):c.*1053T>G rs1048677 0.18814
NM_004937.3(CTNS):c.-213T>C rs537567463 0.00300
NM_004937.2(CTNS):c.-497C>T rs530371788 0.00291
NM_004937.3(CTNS):c.-258G>A rs559229383 0.00259
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390 0.00219
NM_004937.3(CTNS):c.*942C>T rs140127855 0.00207
NM_004937.3(CTNS):c.*835A>C rs57765820 0.00198
NM_004937.3(CTNS):c.*2717A>G rs567476347 0.00099
NM_004937.3(CTNS):c.*1366C>G rs558637146 0.00086
NM_004937.3(CTNS):c.*2662G>A rs534360650 0.00079
NM_004937.3(CTNS):c.*1899G>A rs563849197 0.00072
NM_004937.3(CTNS):c.695G>A (p.Arg232His) rs142641674 0.00072
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn) rs140326392 0.00072
NM_004937.3(CTNS):c.*2593A>T rs549150113 0.00071
NM_004937.3(CTNS):c.*2082C>T rs182280281 0.00044
NM_004937.3(CTNS):c.853-15G>A rs376050426 0.00043
NM_004937.3(CTNS):c.561+4C>T rs111256750 0.00040
NM_004937.3(CTNS):c.*469G>A rs150501484 0.00036
NM_004937.3(CTNS):c.94G>A (p.Val32Ile) rs146684402 0.00036
NM_004937.3(CTNS):c.*2568G>C rs770525743 0.00035
NM_004937.2(CTNS):c.-509C>G rs534946329 0.00032
NM_004937.3(CTNS):c.661G>A (p.Val221Met) rs138270433 0.00029
NM_004937.2(CTNS):c.-451A>G rs1012479993 0.00026
NM_004937.3(CTNS):c.*262G>A rs201647994 0.00026
NM_004937.3(CTNS):c.*1659C>T rs778764728 0.00024
NM_004937.3(CTNS):c.444G>A (p.Met148Ile) rs199977728 0.00023
NM_004937.3(CTNS):c.*129C>T rs746209035 0.00021
NM_004937.3(CTNS):c.*431C>T rs886052868 0.00019
NM_004937.3(CTNS):c.332C>T (p.Pro111Leu) rs149689304 0.00014
NM_004937.3(CTNS):c.480C>T (p.Phe160=) rs147565118 0.00012
NM_004937.3(CTNS):c.*2584C>T rs548531950 0.00011
NM_004937.3(CTNS):c.694C>T (p.Arg232Cys) rs138823792 0.00011
NM_004937.3(CTNS):c.*55C>G rs751680506 0.00010
NM_004937.3(CTNS):c.*1176C>G rs553878990 0.00009
NM_004937.3(CTNS):c.*2036G>A rs184828971 0.00009
NM_004937.3(CTNS):c.*2377G>A rs543014932 0.00007
NM_004937.3(CTNS):c.-20+13T>C rs780032861 0.00007
NM_004937.3(CTNS):c.*1336G>A rs541263497 0.00006
NM_004937.3(CTNS):c.*1874G>A rs886052880 0.00006
NM_004937.3(CTNS):c.*1331G>A rs555688774 0.00005
NM_004937.3(CTNS):c.*1383C>T rs886052877 0.00005
NM_004937.3(CTNS):c.*2020T>C rs543577418 0.00005
NM_004937.3(CTNS):c.*657A>G rs970677281 0.00005
NM_004937.3(CTNS):c.285A>T (p.Gly95=) rs373998956 0.00005
NM_004937.2(CTNS):c.-362C>T rs886052862 0.00004
NM_004937.2(CTNS):c.-364G>T rs886052861 0.00004
NM_004937.3(CTNS):c.*1680G>A rs572393960 0.00004
NM_004937.3(CTNS):c.*2477C>G rs781672689 0.00004
NM_004937.3(CTNS):c.*2628C>T rs886052886 0.00004
NM_004937.3(CTNS):c.1083G>A (p.Pro361=) rs371189196 0.00004
NM_004937.3(CTNS):c.407T>G (p.Val136Gly) rs764372178 0.00004
NM_004937.3(CTNS):c.730G>A (p.Ala244Thr) rs559490847 0.00004
NM_004937.3(CTNS):c.*1249C>T rs886052876 0.00003
NM_004937.3(CTNS):c.*1397C>T rs886052878 0.00003
NM_004937.3(CTNS):c.*1502C>G rs377728246 0.00003
NM_004937.3(CTNS):c.*16T>C rs201198798 0.00003
NM_004937.3(CTNS):c.*1708A>G rs867189674 0.00003
NM_004937.3(CTNS):c.*2195G>A rs886052883 0.00003
NM_004937.3(CTNS):c.*2492G>A rs886052884 0.00003
NM_004937.3(CTNS):c.*2527G>A rs886052885 0.00003
NM_004937.3(CTNS):c.*280G>A rs200771636 0.00003
NM_004937.3(CTNS):c.-47A>C rs886052865 0.00003
NM_004937.3(CTNS):c.*176G>A rs200021713 0.00002
NM_004937.3(CTNS):c.*1889C>T rs557935819 0.00002
NM_004937.3(CTNS):c.*206C>T rs367951710 0.00002
NM_004937.3(CTNS):c.*2243G>A rs897077378 0.00002
NM_004937.3(CTNS):c.*550G>A rs920508760 0.00002
NM_004937.3(CTNS):c.481G>A (p.Asp161Asn) rs371533565 0.00002
NM_004937.2(CTNS):c.-429T>C rs886052860 0.00001
NM_004937.3(CTNS):c.*1250G>A rs960133187 0.00001
NM_004937.3(CTNS):c.*1472G>A rs563539494 0.00001
NM_004937.3(CTNS):c.*1501T>C rs886052879 0.00001
NM_004937.3(CTNS):c.*2139T>C rs1180495360 0.00001
NM_004937.3(CTNS):c.*599T>C rs1389727221 0.00001
NM_004937.3(CTNS):c.-24C>T rs886052866 0.00001
NM_004937.3(CTNS):c.1008T>G (p.Phe336Leu) rs762561354 0.00001
NM_004937.3(CTNS):c.1071C>T (p.Tyr357=) rs1210146657 0.00001
NM_004937.3(CTNS):c.363C>T (p.Ser121=) rs746463725 0.00001
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp) rs754433265 0.00001
NM_004937.3(CTNS):c.823G>A (p.Ala275Thr) rs752869556 0.00001
NM_004937.3(CTNS):c.82G>C (p.Val28Leu) rs759921102 0.00001
NM_004937.2(CTNS):c.-581A>T rs1031783359
NM_004937.3(CTNS):c.*100G>T rs2076259110
NM_004937.3(CTNS):c.*1024_*1030delinsTGAAGCTGTC rs886052872
NM_004937.3(CTNS):c.*1033_*1034insGGC rs397831765
NM_004937.3(CTNS):c.*1046_*1047dup rs772764926
NM_004937.3(CTNS):c.*1047dup rs772764926
NM_004937.3(CTNS):c.*1125C>T rs886052874
NM_004937.3(CTNS):c.*1176_*1179del rs886052875
NM_004937.3(CTNS):c.*1956_*1957del rs397856854
NM_004937.3(CTNS):c.*1957dup rs397856854
NM_004937.3(CTNS):c.*2059C>G rs2076290375
NM_004937.3(CTNS):c.*577T>C rs886052869
NM_004937.3(CTNS):c.*654G>T rs886052870
NM_004937.3(CTNS):c.*871G>C rs886052871
NM_004937.3(CTNS):c.*983G>A rs2076273486
NM_004937.3(CTNS):c.-136C>A rs886052863
NM_004937.3(CTNS):c.-23AG[1] rs550436044
NM_004937.3(CTNS):c.-272A>C rs534368692
NM_004937.3(CTNS):c.-74A>T rs886052864
NM_004937.3(CTNS):c.306T>C (p.His102=) rs2076094603
NM_004937.3(CTNS):c.534C>A (p.Ile178=) rs113967200
NM_004937.3(CTNS):c.699G>A (p.Val233=) rs2076195866
NM_004937.3(CTNS):c.853-3C>T rs113994210

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