ClinVar Miner

List of variants studied for Irido-corneo-trabecular dysgenesis by Eye Genetics Research Group, Children's Medical Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val) rs587778874

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