ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_000280.4(PAX6):c.*2887delG rs886048188 0.00050
NM_000280.4(PAX6):c.*1394A>C rs776894983 0.00031
NM_001368894.2(PAX6):c.*335T>C rs766518284 0.00020
NM_000280.4(PAX6):c.*3908C>T rs886048185 0.00007
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
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_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_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.*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.*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

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