List of variants studied for Hermansky-Pudlak syndrome 3 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.2888-1612G>A	rs281865096	0.00007
NM_032383.5(HPS3):c.1163+1G>A	rs201227603	0.00005
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)	rs121908316	0.00001
NM_032383.5(HPS3):c.2482-2A>G	rs397507168	0.00001
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1691+2T>G	rs281865093
NM_032383.5(HPS3):c.2589+1G>C	rs281865095

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