List of variants reported as pathogenic for Hermansky-Pudlak syndrome by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_181507.2(HPS5):c.543del (p.Gln181fs)	rs755827664	0.00002
NM_000195.5(HPS1):c.1189del (p.Gln397fs)	rs281865084
NM_024747.6(HPS6):c.155del (p.Val52fs)	rs1590262450
NM_024747.6(HPS6):c.1624del (p.Asp542fs)	rs1590263807
NM_024747.6(HPS6):c.238dup (p.Asp80fs)	rs281865108
NM_024747.6(HPS6):c.283del (p.Val95fs)	rs1564899012
NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs)	rs752074481
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)	rs753185316
NM_032383.5(HPS3):c.2814dup (p.Leu939fs)	rs1576708708
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs)	rs886041723

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