ClinVar Miner

List of variants reported for Irido-corneo-trabecular dysgenesis by Paul Sabatier University EA-4555, Paul Sabatier University

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_017449.5(EPHB2):c.787G>A (p.Val263Ile) rs150803261 0.00009
NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val) rs765371196 0.00001
NM_000966.6(RARG):c.245C>T (p.Pro82Leu) rs769476878 0.00001
NM_014889.4(PITRM1):c.2420A>G (p.Lys807Arg) rs869025266 0.00001
NM_006445.4(PRPF8):c.3527C>T (p.Ser1176Phe) rs869025267

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