List of variants reported as likely benign for Hermansky-Pudlak syndrome by Illumina Laboratory Services, Illumina

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_022081.6(HPS4):c.-530A>G	rs3747137	0.11724
NM_212550.4(BLOC1S3):c.*1905T>C	rs78979751	0.06757
NM_003664.5(AP3B1):c.1969-10G>A	rs77009095	0.05363
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=)	rs17192146	0.04676
NM_022081.6(HPS4):c.558G>A (p.Ser186=)	rs13054747	0.03591
NM_000096.4(CP):c.2991T>C (p.His997=)	rs34394958	0.03057
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=)	rs76433453	0.02452
NM_001271769.2(AP3B1):c.*588A>G	rs114954951	0.02413
NM_000096.4(CP):c.*137C>T	rs34228141	0.02012
NM_022081.6(HPS4):c.1899C>T (p.Val633=)	rs35993959	0.01542
NM_000096.4(CP):c.3182-4A>G	rs34272112	0.00805
NM_022081.6(HPS4):c.*1589C>A	rs117397456	0.00238
NM_022081.6(HPS4):c.696G>A (p.Pro232=)	rs3747132	0.00237
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del)	rs199702315
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)	rs111935323
NM_032383.5(HPS3):c.884+25del	rs10693502

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