ClinVar Miner

List of variants in gene PAX6 reported as uncertain significance for Irido-corneo-trabecular dysgenesis

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp) rs2135097306
NM_001368894.2(PAX6):c.399+5G>A rs1592542002

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