ClinVar Miner

List of variants studied for Oculocutaneous albinism type 4 by OMIM

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Total variants: 7
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NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619
NM_016180.5(SLC45A2):c.1121del (p.Leu374fs) rs730880271
NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val) rs121912620
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn) rs121912621
NM_016180.5(SLC45A2):c.563-1G>A rs730880270
NM_016180.5(SLC45A2):c.656_658TCT[2] (p.Phe221del) rs387906318
NM_016180.5(SLC45A2):c.986del (p.Thr329fs) rs387906317

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