ClinVar Miner

List of variants studied for Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; Coloboma, ocular, autosomal dominant by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.535G>T (p.Gly179Trp)
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222

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