ClinVar Miner

List of variants studied for Aniridia, Cerebellar Ataxia, And Intellectual Disability

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ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000280.4(PAX6):c.*3202G>A rs608293 0.88020
NM_000280.4(PAX6):c.*2893_*2896dupATTT rs397795797 0.87467
NM_000280.4(PAX6):c.*1184A>T rs1506 0.71948
NM_000280.4(PAX6):c.*3958G>A rs3026401 0.70691
NM_000280.4(PAX6):c.*2707C>T rs3026398 0.22983
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.*2305G>A rs73477656 0.02650
NM_000280.4(PAX6):c.*3736_*3737delCA rs141022497 0.02589
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00925
NM_000280.4(PAX6):c.*2985G>A rs3026399 0.00879
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_000280.4(PAX6):c.*3670C>T rs149777109 0.00394
NM_000280.4(PAX6):c.*3168C>T rs187705792 0.00295
NM_000280.4(PAX6):c.*2697T>A rs138881442 0.00236
NM_000280.4(PAX6):c.*1478C>T rs181818313 0.00198
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00196
NM_000280.4(PAX6):c.*2506C>T rs3026397 0.00189
NM_000280.4(PAX6):c.*4370C>G rs183115097 0.00189
NM_000280.4(PAX6):c.*5108A>G rs146579778 0.00120
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00116
NM_000280.4(PAX6):c.*3885G>T rs183433948 0.00089
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00087
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 0.00046
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.*3027G>A rs541022955 0.00017
NM_000280.4(PAX6):c.*3318A>G rs371438311 0.00013
NM_000280.4(PAX6):c.*1604A>T rs189545730 0.00011
NM_000280.4(PAX6):c.*4003G>T rs886048184 0.00010
NM_000280.4(PAX6):c.*1287A>T rs576321279 0.00008
NM_000280.4(PAX6):c.*3908C>T rs886048185 0.00007
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00007
NM_000280.4(PAX6):c.*3746C>T rs567720234 0.00005
NM_000280.4(PAX6):c.*2432A>G rs886048192 0.00003
NM_000280.4(PAX6):c.*2490G>A rs886048191 0.00003
NM_000280.4(PAX6):c.*2551C>T rs886048190 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_001368894.2(PAX6):c.-507T>C rs886048209 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.*2159C>T rs3026396 0.00001
NM_000280.4(PAX6):c.*2387G>T rs886048194 0.00001
NM_000280.4(PAX6):c.*4076A>C rs886048183 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_000280.4(PAX6):c.*2385G>C rs886048195
NM_000280.4(PAX6):c.*2393T>C rs886048193
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.*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.184-8C>T rs886048203
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202

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