List of variants reported as likely pathogenic for Hermansky-Pudlak syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003664.5(AP3B1):c.3131+1G>A	rs766116144	0.00001
NM_003664.5(AP3B1):c.2078-1G>A	rs11739510
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter)	rs1746480237
NM_003664.5(AP3B1):c.3149_3150del (p.Val1050fs)

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