List of variants reported as pathogenic for Hermansky-Pudlak syndrome 3 by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.1163+1G>A	rs201227603	0.00005
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter)	rs755083879	0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter)	rs369855073	0.00001
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs)	rs745457191
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)	rs1277509410

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