ClinVar Miner

List of variants reported as likely pathogenic for Ocular albinism, type I

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000273.3(GPR143):c.223dup (p.Ala75fs) rs672601353
NM_000273.3(GPR143):c.346T>G (p.Cys116Gly) rs62635030
NM_000273.3(GPR143):c.456-5_463del rs2146691632
NM_000273.3(GPR143):c.767+1G>A rs2146687459
NM_000273.3(GPR143):c.885+1G>A rs281865184

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