List of variants reported as uncertain significance for Hermansky-Pudlak syndrome 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.1940+6G>A	rs375927441	0.00030
NM_000195.5(HPS1):c.1593G>C (p.Met531Ile)	rs2136134351
NM_000195.5(HPS1):c.499G>A (p.Ala167Thr)
NM_000195.5(HPS1):c.689G>A (p.Arg230His)	rs377752969

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