ClinVar Miner

List of variants reported for Oculocutaneous albinism type 1B by Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1185-2A>G rs1289685376
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181

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