List of variants reported as likely pathogenic for Hermansky-Pudlak syndrome by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser)	rs756325364	0.00002
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile)	rs780183200	0.00002
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter)	rs201348482	0.00001
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg)	rs1591045080
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter)	rs1591002808
NM_022081.6(HPS4):c.276+5G>A	rs1602079277

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