List of variants reported as likely pathogenic for Hermansky-Pudlak syndrome 3 by Revvity Omics, Revvity

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)	rs121908316	0.00001
NM_032383.5(HPS3):c.2589+2T>C	rs1411572278	0.00001
NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs)	rs1309602954
NM_032383.5(HPS3):c.1509+1G>A	rs746906314
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter)	rs1723609962
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)	rs1277509410

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