ClinVar Miner

List of variants in gene AP3B1 reported as benign for Hermansky Pudlak syndrome 2

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Total variants: 4
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HGVS dbSNP
NM_001271769.2(AP3B1):c.2873_2875CTG[1] (p.Ala959del) rs111935323
NM_003664.4(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.4(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.4(AP3B1):c.2880C>T (p.Ala960=) rs62001052

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