List of variants reported as uncertain significance for Hermansky-Pudlak syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys)	rs775570414	0.00012
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)	rs138771756	0.00006
NM_000195.5(HPS1):c.695C>T (p.Ala232Val)	rs764420988	0.00006
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup)	rs281865164	0.00004
NM_000195.5(HPS1):c.1787G>T (p.Gly596Val)	rs139951191	0.00001
NM_000195.5(HPS1):c.1996G>A (p.Glu666Lys)	rs121908385	0.00001
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)	rs748106098
NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro)	rs1302271283
NM_000195.5(HPS1):c.1937A>G (p.Tyr646Cys)	rs1467653379
NM_000195.5(HPS1):c.316C>G (p.Arg106Gly)	rs376557022
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)
NM_022081.6(HPS4):c.461A>G (p.His154Arg)	rs281865098
NM_022081.6(HPS4):c.554G>A (p.Arg185His)

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