ClinVar Miner

List of variants reported as uncertain significance for brittle cornea syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 198
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.*634C>A rs74032868 0.03588
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=) rs148616993 0.02438
NM_018699.4(PRDM5):c.*120T>C rs77157999 0.01181
NM_001367624.2(ZNF469):c.*665G>A rs75706884 0.00863
NM_001367624.2(ZNF469):c.1584G>A (p.Pro528=) rs143852982 0.00854
NM_001367624.2(ZNF469):c.952G>A (p.Val318Met) rs139066376 0.00852
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=) rs74547407 0.00765
NM_001367624.2(ZNF469):c.8625G>A (p.Pro2875=) rs138771545 0.00751
NM_001367624.2(ZNF469):c.8067G>A (p.Gly2689=) rs116213189 0.00697
NM_001367624.2(ZNF469):c.*264A>G rs193210256 0.00591
NM_001367624.2(ZNF469):c.627G>T (p.Gly209=) rs113227277 0.00590
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481 0.00528
NM_001367624.2(ZNF469):c.*599C>G rs146233624 0.00440
NM_001367624.2(ZNF469):c.5856T>C (p.Cys1952=) rs186652137 0.00374
NM_001367624.2(ZNF469):c.9321G>A (p.Pro3107=) rs543846859 0.00365
NM_001367624.2(ZNF469):c.11658G>C (p.Gln3886His) rs182269913 0.00354
NM_001367624.2(ZNF469):c.6388C>G (p.Leu2130Val) rs562559927 0.00344
NM_001367624.2(ZNF469):c.6259G>A (p.Ala2087Thr) rs144986357 0.00330
NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=) rs539527724 0.00287
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00283
NM_001367624.2(ZNF469):c.3472C>T (p.Pro1158Ser) rs184894059 0.00268
NM_001367624.2(ZNF469):c.8869G>A (p.Gly2957Ser) rs573884006 0.00266
NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr) rs145158875 0.00255
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372 0.00222
NM_001367624.2(ZNF469):c.*420G>A rs45532839 0.00219
NM_001367624.2(ZNF469):c.*421G>T rs148260049 0.00207
NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His) rs201943633 0.00196
NM_001367624.2(ZNF469):c.*518G>A rs563015267 0.00189
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu) rs76389306 0.00188
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834 0.00185
NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser) rs138954293 0.00180
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00140
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg) rs569602115 0.00135
NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile) rs536586591 0.00135
NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=) rs373162171 0.00101
NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618 0.00093
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys) rs543370102 0.00093
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr) rs199932922 0.00092
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=) rs554795578 0.00090
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn) rs867530230 0.00081
NM_018699.3(PRDM5):c.-234C>T rs111704622 0.00077
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln) rs200153921 0.00073
NM_018699.3(PRDM5):c.-172C>T rs558723351 0.00072
NM_018699.4(PRDM5):c.342A>C (p.Glu114Asp) rs146228268 0.00070
NM_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg) rs772817384 0.00068
NM_001367624.2(ZNF469):c.9696G>A (p.Thr3232=) rs573582117 0.00068
NM_001367624.2(ZNF469):c.*1071A>T rs536887736 0.00065
NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly) rs536054902 0.00052
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr) rs553227769 0.00051
NM_001367624.2(ZNF469):c.7716G>A (p.Gln2572=) rs775513309 0.00050
NM_001367624.2(ZNF469):c.5577G>A (p.Pro1859=) rs764487066 0.00049
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=) rs763826959 0.00045
NM_001367624.2(ZNF469):c.4216G>T (p.Asp1406Tyr) rs557997233 0.00045
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp) rs575820215 0.00043
NM_001367624.2(ZNF469):c.4456G>A (p.Asp1486Asn) rs373777402 0.00036
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr) rs201540905 0.00032
NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=) rs371897217 0.00031
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His) rs142515463 0.00030
NM_001367624.2(ZNF469):c.4376T>G (p.Leu1459Arg) rs559625962 0.00029
NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu) rs562264117 0.00028
NM_018699.4(PRDM5):c.-61G>C rs556802821 0.00023
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=) rs273585633 0.00022
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys) rs201325904 0.00022
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe) rs568197988 0.00021
NM_001367624.2(ZNF469):c.*617C>T rs886052422 0.00020
NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg) rs557636016 0.00020
NM_001367624.2(ZNF469):c.3931C>T (p.Pro1311Ser) rs187453092 0.00016
NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu) rs552311966 0.00015
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met) rs151127652 0.00013
NM_001367624.2(ZNF469):c.4892G>A (p.Gly1631Glu) rs755244502 0.00013
NM_001367624.2(ZNF469):c.7497G>A (p.Pro2499=) rs768288160 0.00013
NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys) rs578166707 0.00013
NM_001367624.2(ZNF469):c.*218G>A rs137889724 0.00012
NM_001367624.2(ZNF469):c.*285C>T rs35994806 0.00012
NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr) rs766878740 0.00012
NM_001367624.2(ZNF469):c.*216G>A rs146964491 0.00011
NM_001367624.2(ZNF469):c.10740C>T (p.Asn3580=) rs527707590 0.00011
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu) rs754458926 0.00011
NM_001367624.2(ZNF469):c.5707C>T (p.Arg1903Cys) rs757657013 0.00011
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro) rs529250336 0.00011
NM_001367624.2(ZNF469):c.951C>T (p.Ala317=) rs561239255 0.00011
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe) rs199602365 0.00011
NM_001367624.2(ZNF469):c.402C>T (p.Asp134=) rs569036398 0.00010
NM_001367624.2(ZNF469):c.8654C>T (p.Pro2885Leu) rs886052413 0.00010
NM_018699.4(PRDM5):c.*154A>T rs181244989 0.00010
NM_001367624.2(ZNF469):c.*492G>A rs190108769 0.00009
NM_001367624.2(ZNF469):c.5145G>A (p.Arg1715=) rs577775261 0.00009
NM_001367624.2(ZNF469):c.9921G>A (p.Thr3307=) rs533072680 0.00009
NM_018699.4(PRDM5):c.1722G>A (p.Gln574=) rs147796327 0.00009
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu) rs769853271 0.00008
NM_001367624.2(ZNF469):c.609C>A (p.Pro203=) rs886052390 0.00008
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser) rs759032227 0.00008
NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg) rs886052412 0.00008
NM_001367624.2(ZNF469):c.8801T>A (p.Leu2934Gln) rs764531239 0.00008
NM_001367624.2(ZNF469):c.942G>A (p.Pro314=) rs767588443 0.00008
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro) rs370402083 0.00007
NM_001367624.2(ZNF469):c.6075G>A (p.Ala2025=) rs373300146 0.00007
NM_001367624.2(ZNF469):c.9894C>T (p.Asp3298=) rs551298094 0.00007
NM_001367624.2(ZNF469):c.11546G>A (p.Arg3849Gln) rs775672255 0.00006
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn) rs749179728 0.00006
NM_001367624.2(ZNF469):c.4574G>C (p.Ser1525Thr) rs545662898 0.00006
NM_001367624.2(ZNF469):c.7062G>A (p.Thr2354=) rs866760637 0.00006
NM_001367624.2(ZNF469):c.7116C>G (p.Thr2372=) rs762487170 0.00006
NM_001367624.2(ZNF469):c.8806G>A (p.Glu2936Lys) rs762301873 0.00006
NM_018699.4(PRDM5):c.*176T>C rs558671397 0.00006
NM_001367624.2(ZNF469):c.11052G>A (p.Ser3684=) rs780722176 0.00005
NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu) rs752770883 0.00005
NM_001367624.2(ZNF469):c.11566C>T (p.Arg3856Cys) rs762894872 0.00004
NM_001367624.2(ZNF469):c.1719C>T (p.His573=) rs552893295 0.00004
NM_001367624.2(ZNF469):c.4849C>T (p.Pro1617Ser) rs557351664 0.00004
NM_001367624.2(ZNF469):c.6846C>T (p.Ala2282=) rs748097865 0.00004
NM_001367624.2(ZNF469):c.8080C>T (p.Arg2694Cys) rs540443650 0.00004
NM_001367624.2(ZNF469):c.81G>A (p.Pro27=) rs534464702 0.00004
NM_001367624.2(ZNF469):c.11809G>A (p.Gly3937Arg) rs886052421 0.00003
NM_001367624.2(ZNF469):c.1875C>A (p.Leu625=) rs886052392 0.00003
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr) rs886052393 0.00003
NM_001367624.2(ZNF469):c.4778C>T (p.Ser1593Leu) rs768864900 0.00003
NM_001367624.2(ZNF469):c.8430G>A (p.Ala2810=) rs574024256 0.00003
NM_001367624.2(ZNF469):c.9784G>T (p.Ala3262Ser) rs886052418 0.00003
NM_001367624.2(ZNF469):c.*499A>G rs537339757 0.00002
NM_001367624.2(ZNF469):c.*792A>G rs886052424 0.00002
NM_001367624.2(ZNF469):c.3918G>A (p.Gly1306=) rs768501538 0.00002
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu) rs781096189 0.00002
NM_001367624.2(ZNF469):c.5010C>A (p.Ala1670=) rs766852564 0.00002
NM_001367624.2(ZNF469):c.9705G>A (p.Ala3235=) rs757816736 0.00002
NM_001367624.2(ZNF469):c.*649C>G rs561472955 0.00001
NM_001367624.2(ZNF469):c.*664C>T rs886052423 0.00001
NM_001367624.2(ZNF469):c.1048G>A (p.Asp350Asn) rs568820656 0.00001
NM_001367624.2(ZNF469):c.1547G>C (p.Gly516Ala) rs753160761 0.00001
NM_001367624.2(ZNF469):c.2361C>G (p.His787Gln) rs886052395 0.00001
NM_001367624.2(ZNF469):c.2652C>G (p.Pro884=) rs767431034 0.00001
NM_001367624.2(ZNF469):c.2952C>T (p.Asp984=) rs886052398 0.00001
NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser) rs886052399 0.00001
NM_001367624.2(ZNF469):c.3183C>T (p.Arg1061=) rs756703220 0.00001
NM_001367624.2(ZNF469):c.3485G>T (p.Arg1162Leu) rs886052402 0.00001
NM_001367624.2(ZNF469):c.376A>G (p.Ser126Gly) rs886052389 0.00001
NM_001367624.2(ZNF469):c.6480C>T (p.Pro2160=) rs370190101 0.00001
NM_001367624.2(ZNF469):c.6665T>C (p.Leu2222Pro) rs78213929 0.00001
NM_001367624.2(ZNF469):c.7111G>A (p.Gly2371Arg) rs886052408 0.00001
NM_001367624.2(ZNF469):c.7159C>T (p.Arg2387Cys) rs886052409 0.00001
NM_001367624.2(ZNF469):c.7720C>T (p.His2574Tyr) rs886052410 0.00001
NM_001367624.2(ZNF469):c.8856C>T (p.Asp2952=) rs766581620 0.00001
NM_001367624.2(ZNF469):c.9174G>A (p.Leu3058=) rs886052416 0.00001
NM_001367624.2(ZNF469):c.9279G>T (p.Glu3093Asp) rs886052417 0.00001
NM_018699.3(PRDM5):c.-133T>C rs886059046 0.00001
NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg) rs371617787 0.00001
NM_001367624.2(ZNF469):c.*1323G>A rs780254370
NM_001367624.2(ZNF469):c.*1348G>A rs886052428
NM_001367624.2(ZNF469):c.*491T>C rs557906701
NM_001367624.2(ZNF469):c.*547G>T rs370886541
NM_001367624.2(ZNF469):c.*879T>C rs886052426
NM_001367624.2(ZNF469):c.*932A>G rs886052427
NM_001367624.2(ZNF469):c.10325G>T (p.Arg3442Met) rs199528724
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) rs56236932
NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val) rs530393871
NM_001367624.2(ZNF469):c.10572C>T (p.Pro3524=) rs763317477
NM_001367624.2(ZNF469):c.11109G>T (p.Val3703=) rs886052419
NM_001367624.2(ZNF469):c.11536C>G (p.Arg3846Gly) rs886052420
NM_001367624.2(ZNF469):c.11822C>T (p.Thr3941Ile) rs766057875
NM_001367624.2(ZNF469):c.142G>A (p.Ala48Thr) rs886052388
NM_001367624.2(ZNF469):c.1528G>A (p.Gly510Ser) rs755555951
NM_001367624.2(ZNF469):c.1932G>C (p.Thr644=) rs539996728
NM_001367624.2(ZNF469):c.1982A>G (p.Tyr661Cys) rs886052394
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg) rs571184307
NM_001367624.2(ZNF469):c.2810A>T (p.Asp937Val) rs550198026
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del) rs775423936
NM_001367624.2(ZNF469):c.2929G>C (p.Gly977Arg) rs770061832
NM_001367624.2(ZNF469):c.2948ACG[1] (p.Asp984del) rs886052397
NM_001367624.2(ZNF469):c.2986C>A (p.Arg996Ser) rs886052400
NM_001367624.2(ZNF469):c.3255G>C (p.Glu1085Asp) rs886052401
NM_001367624.2(ZNF469):c.3776G>A (p.Ser1259Asn) rs886052403
NM_001367624.2(ZNF469):c.4195C>T (p.His1399Tyr) rs886052404
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del) rs555544144
NM_001367624.2(ZNF469):c.5150C>G (p.Pro1717Arg) rs544832628
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367624.2(ZNF469):c.5488G>T (p.Ala1830Ser) rs778548266
NM_001367624.2(ZNF469):c.5862C>G (p.Pro1954=) rs201666199
NM_001367624.2(ZNF469):c.5912C>T (p.Ala1971Val) rs886052406
NM_001367624.2(ZNF469):c.6029G>A (p.Gly2010Glu) rs886052407
NM_001367624.2(ZNF469):c.699C>T (p.Asp233=) rs886052391
NM_001367624.2(ZNF469):c.8003T>C (p.Met2668Thr) rs886052411
NM_001367624.2(ZNF469):c.8112G>C (p.Glu2704Asp) rs773262065
NM_001367624.2(ZNF469):c.8642G>A (p.Arg2881His) rs142753357
NM_001367624.2(ZNF469):c.8642G>T (p.Arg2881Leu) rs142753357
NM_001367624.2(ZNF469):c.8974A>C (p.Met2992Leu) rs886052414
NM_001367624.2(ZNF469):c.9024C>T (p.Asp3008=) rs886052415
NM_018699.3(PRDM5):c.-207G>A rs879793284
NM_018699.3(PRDM5):c.-245C>G rs886059047
NM_018699.4(PRDM5):c.*141T>C rs886059040
NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr) rs563401372
NM_018699.4(PRDM5):c.1385G>C (p.Arg462Thr) rs886059041
NM_018699.4(PRDM5):c.1887C>T (p.Asp629=) rs376740879
NM_018699.4(PRDM5):c.237C>T (p.Ser79=) rs374500219
NM_018699.4(PRDM5):c.36G>T (p.Leu12=) rs755929725
NM_018699.4(PRDM5):c.392A>C (p.Glu131Ala) rs886059044
NM_018699.4(PRDM5):c.592G>C (p.Glu198Gln) rs886059043

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.