List of variants reported as likely benign for Hermansky-Pudlak syndrome 3

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000096.4(CP):c.*879A>C	rs144029944	0.00863
NM_032383.5(HPS3):c.*170C>T	rs182666670	0.00795
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)	rs34388030	0.00590
NM_000096.4(CP):c.*259C>T	rs192321084	0.00414
NM_032383.5(HPS3):c.2055G>A (p.Leu685=)	rs140443498	0.00300
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met)	rs148168280	0.00024
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr)	rs142027515	0.00014
NM_032383.5(HPS3):c.2469A>G (p.Thr823=)	rs370137287	0.00010
NM_032383.5(HPS3):c.1228A>G (p.Met410Val)	rs756295432	0.00008
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)	rs559550536	0.00007
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys)	rs543058717	0.00002
NM_032383.5(HPS3):c.2967T>C (p.Phe989=)	rs1170514296	0.00001

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