ClinVar Miner

List of variants reported as benign for partial deletion of chromosome 11 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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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 0.87931
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_000280.4(PAX6):c.*2305G>A rs73477656 0.02650
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
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_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 0.00303
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_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_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_000280.4(PAX6):c.*4627A>C rs140971065 0.00030
NM_000280.4(PAX6):c.*3318A>G rs371438311 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.*4696G>C rs180780893 0.00002
NM_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_000280.4(PAX6):c.*3246_*3247insTTTT rs34919147
NM_000280.4(PAX6):c.*4599T>G rs185968715

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