ClinVar Miner

List of variants in gene AP3B1 reported as benign for Hermansky-Pudlak syndrome

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Total variants: 5
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NM_003664.4(AP3B1):c.*107T>A rs11552314
NM_003664.4(AP3B1):c.280-14dup rs5868908
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360

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