ClinVar Miner

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

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Total variants: 6
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NM_001271769.2(AP3B1):c.*588A>G rs114954951
NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) rs76433453
NM_003664.4(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146
NM_003664.5(AP3B1):c.1969-10G>A rs77009095
NM_003664.5(AP3B1):c.3020_3022CTG[1] (p.Ala1008del) rs111935323

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