ClinVar Miner

List of variants studied for partial deletion of the short arm of chromosome 11 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 117
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000280.4(PAX6):c.*3202G>A rs608293 0.88020
NM_000280.4(PAX6):c.*2893_*2896dupATTT rs397795797 0.87931
NM_000280.4(PAX6):c.*1184A>T rs1506 0.72043
NM_000280.4(PAX6):c.*3958G>A rs3026401 0.70691
NM_000280.4(PAX6):c.*2160G>A rs12421026 0.42881
NM_000280.4(PAX6):c.*2707C>T rs3026398 0.22983
NC_000011.10:g.31787522C>T rs662702 0.14929
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_000280.4(PAX6):c.*4296G>C rs16922475 0.05615
NM_000280.4(PAX6):c.*2901T>C rs542906080 0.04927
NM_000280.4(PAX6):c.*3736_*3737delCA rs141022497 0.02792
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_000280.4(PAX6):c.*2305G>A rs73477656 0.02650
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_000280.4(PAX6):c.*2559G>A rs141344418 0.00935
NM_000280.4(PAX6):c.*2416G>T rs79739975 0.00857
NM_000280.4(PAX6):c.*2985G>A rs3026399 0.00813
NM_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_001368894.2(PAX6):c.-180A>G rs75563367 0.00766
NM_000280.4(PAX6):c.*2238T>G rs73477658 0.00701
NM_024426.6(WT1):c.*897G>C rs5030324 0.00520
NM_000280.4(PAX6):c.*3670C>T rs149777109 0.00394
NM_024426.6(WT1):c.*542G>A rs142726499 0.00380
NM_000280.4(PAX6):c.*3168C>T rs187705792 0.00303
NM_000280.4(PAX6):c.*2697T>A rs138881442 0.00236
NM_000280.4(PAX6):c.*1063A>G rs117590302 0.00220
NM_000280.4(PAX6):c.*1478C>T rs181818313 0.00198
NM_000280.4(PAX6):c.*4370C>G rs183115097 0.00194
NM_000280.4(PAX6):c.*2506C>T rs3026397 0.00189
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_024426.6(WT1):c.*138G>A rs111351882 0.00165
NM_000280.4(PAX6):c.*1436G>A rs138035131 0.00148
NM_000280.4(PAX6):c.*5108A>G rs146579778 0.00120
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_000280.4(PAX6):c.*3885G>T rs183433948 0.00096
NM_000280.4(PAX6):c.*3428C>T rs191399467 0.00076
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_000280.4(PAX6):c.*2882T>C rs143185259 0.00060
NM_000280.4(PAX6):c.*2887delG rs886048188 0.00050
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_000280.4(PAX6):c.*1394A>C rs776894983 0.00031
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_000280.4(PAX6):c.*4627A>C rs140971065 0.00030
NM_001368894.2(PAX6):c.*335T>C rs766518284 0.00020
NM_000280.4(PAX6):c.*2977C>A rs192709453 0.00019
NM_000280.4(PAX6):c.*3027G>A rs541022955 0.00017
NM_000280.4(PAX6):c.*1604A>T rs189545730 0.00011
NM_000280.4(PAX6):c.*1287A>T rs576321279 0.00008
NM_000280.4(PAX6):c.*3908C>T rs886048185 0.00007
NM_024426.6(WT1):c.*574del rs5030319 0.00007
NM_000280.4(PAX6):c.*3318A>G rs371438311 0.00006
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_000280.4(PAX6):c.*3746C>T rs567720234 0.00005
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_000280.4(PAX6):c.*2490G>A rs886048191 0.00003
NM_000280.4(PAX6):c.*2906A>G rs886048187 0.00003
NM_000280.4(PAX6):c.*4533T>C rs745626044 0.00003
NM_000280.4(PAX6):c.*4696G>C rs180780893 0.00002
NM_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_001368894.2(PAX6):c.-430G>C rs886048207 0.00002
NM_000280.4(PAX6):c.*1053T>C rs886048197 0.00001
NM_000280.4(PAX6):c.*1521C>T rs886048196 0.00001
NM_000280.4(PAX6):c.*2387G>T rs886048194 0.00001
NM_000280.4(PAX6):c.*2551C>T rs886048190 0.00001
NM_000280.4(PAX6):c.*939A>G rs886048198 0.00001
NM_001368894.2(PAX6):c.*207G>A rs886048199 0.00001
NM_001368894.2(PAX6):c.*226T>C rs753595935 0.00001
NM_001368894.2(PAX6):c.-59G>T rs886048204 0.00001
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) rs779631884 0.00001
NM_000280.4(PAX6):c.*2159C>T rs3026396
NM_000280.4(PAX6):c.*2385G>C rs886048195
NM_000280.4(PAX6):c.*2393T>C rs886048193
NM_000280.4(PAX6):c.*2432A>G rs886048192
NM_000280.4(PAX6):c.*2705_*2707delAGC rs886048189
NM_000280.4(PAX6):c.*3246_*3247insTTTT rs34919147
NM_000280.4(PAX6):c.*3700_*3701delGT rs886048186
NM_000280.4(PAX6):c.*4003G>T rs886048184
NM_000280.4(PAX6):c.*4076A>C rs886048183
NM_000280.4(PAX6):c.*4128C>T rs886048182
NM_000280.4(PAX6):c.*4361T>C rs886048181
NM_000280.4(PAX6):c.*4599T>G rs185968715
NM_000280.4(PAX6):c.*4919_*4921delATTinsCACAGATTAAAAGAAATG rs886048180
NM_001368894.2(PAX6):c.*107G>C rs886048201
NM_001368894.2(PAX6):c.*183dup rs886048200
NM_001368894.2(PAX6):c.*356del rs200391530
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.-501del rs886048208
NM_001368894.2(PAX6):c.-507T>C rs886048209
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202
NM_024426.6(WT1):c.*1021GT[14] rs58549495
NM_024426.6(WT1):c.*1021GT[15] rs58549495
NM_024426.6(WT1):c.*1021GT[18] rs58549495
NM_024426.6(WT1):c.*1021GT[19] rs58549495
NM_024426.6(WT1):c.*1021GT[20] rs58549495
NM_024426.6(WT1):c.*1058G>T rs886048211
NM_024426.6(WT1):c.*269G>T rs886048225
NM_024426.6(WT1):c.*354G>T rs886048224
NM_024426.6(WT1):c.*366C>A rs886048223
NM_024426.6(WT1):c.*393G>T rs886048222
NM_024426.6(WT1):c.*685G>T rs886048218
NM_024426.6(WT1):c.*707C>A rs886048217
NM_024426.6(WT1):c.*741G>T rs886048216
NM_024426.6(WT1):c.*768A>C rs886048215
NM_024426.6(WT1):c.*841C>A rs886048213
NM_024426.6(WT1):c.-31G>T rs886048234
NM_024426.6(WT1):c.-82A>C rs886048236
NM_024426.6(WT1):c.-86T>C rs886048237
NM_024426.6(WT1):c.-90T>C rs886048238
NM_024426.6(WT1):c.-94G>C rs886048239
NM_024426.6(WT1):c.136G>T (p.Ala46Ser) rs886048233
NM_024426.6(WT1):c.247G>T (p.Ala83Ser) rs886048231
NM_024426.6(WT1):c.285C>T (p.Gly95=) rs886048230

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.