List of variants reported as uncertain significance for Hermansky-Pudlak syndrome with pulmonary fibrosis by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.198G>A (p.Ser66=)	rs115265574	0.00111
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu)	rs199965734	0.00058
NM_000195.5(HPS1):c.54A>G (p.Thr18=)	rs531947687
NM_022081.6(HPS4):c.1670C>G (p.Ala557Gly)

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