List of variants reported as benign for Hermansky-Pudlak syndrome

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Total variants: 18

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HGVS	dbSNP
NM_000096.4(CP):c.*828dup	rs35907111
NM_001349896.1(HPS4):c.-571G>T	rs968425
NM_003664.4(AP3B1):c.*107T>A	rs11552314
NM_003664.4(AP3B1):c.280-14dup	rs5868908
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=)	rs4532349
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu)	rs6453373
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=)	rs42360
NM_012388.3(BLOC1S6):c.2818_2821ACAA[6]	rs376870196
NM_022081.6(HPS4):c.*1229CG[4]	rs10573454
NM_022081.6(HPS4):c.*1613C>A	rs3752589
NM_022081.6(HPS4):c.-253C>T	rs3747134
NM_022081.6(HPS4):c.-296T>C	rs5761557
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val)	rs2014410
NM_022081.6(HPS4):c.1654G>A (p.Val552Met)	rs5752330
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr)	rs1894706
NM_022081.6(HPS4):c.1875G>T (p.Gln625His)	rs1894704
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly)	rs713998
NM_032383.5(HPS3):c.2887+19dup	rs397710976

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