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

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)	rs138771756	0.00006
NM_024747.6(HPS6):c.1A>G (p.Met1Val)	rs763073715	0.00003
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile)	rs780183200	0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)	rs200079039	0.00003
NM_000195.5(HPS1):c.1857+2T>C	rs374689398	0.00002
NM_000195.5(HPS1):c.1744-2A>C	rs281865088	0.00001
NM_024747.6(HPS6):c.779G>A (p.Gly260Glu)	rs1478574193	0.00001
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)	rs748106098
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)	rs121908385
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly)	rs1591093208
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
NM_024747.6(HPS6):c.1649del (p.Gly550fs)	rs1590263820
NM_024747.6(HPS6):c.706_707del (p.Ser236fs)	rs756471925
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter)	rs1553750097
NM_032383.5(HPS3):c.2463dup (p.Arg822fs)	rs1576695913
NM_181507.2(HPS5):c.1423del (p.Leu475fs)	rs766602179
NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter)	rs779921624

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