List of variants reported as pathogenic for Hermansky-Pudlak syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter)	rs104893945	0.00001
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	rs281865163
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)	rs773323079
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter)	rs1220869113
NM_181507.2(HPS5):c.107del (p.Lys36fs)	rs1554948134

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