List of variants reported as benign for Aniridia 1 by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000280.4(PAX6):c.*3202G>A	rs608293	0.88020
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.*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.*2305G>A	rs73477656	0.02650
NM_001368894.2(PAX6):c.*842G>A	rs115045926	0.01111
NM_000280.4(PAX6):c.*2559G>A	rs141344418	0.00868
NM_000280.4(PAX6):c.*2416G>T	rs79739975	0.00857
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.*1063A>G	rs117590302	0.00295
NM_000280.4(PAX6):c.*3168C>T	rs187705792	0.00295
NM_000280.4(PAX6):c.*2506C>T	rs3026397	0.00189
NM_001368894.2(PAX6):c.-107C>T	rs111270711	0.00116
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_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	0.00013
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

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