List of variants reported as benign for Hermansky-Pudlak syndrome 5

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_181507.2(HPS5):c.822C>A (p.Leu274=)	rs1140047	0.72689
NM_181507.2(HPS5):c.1511-30G>A	rs2305565	0.58312
NM_181507.2(HPS5):c.*464C>A	rs1046611	0.36221
NM_181507.2(HPS5):c.*475C>T	rs1046615	0.33834
NM_181507.2(HPS5):c.*299C>T	rs12419588	0.33793
NM_181507.2(HPS5):c.*300T>C	rs12416821	0.33782
NM_181507.2(HPS5):c.3058+9A>G	rs2049129	0.20713
NM_181507.2(HPS5):c.*804C>T	rs1046628	0.16585
NM_181507.2(HPS5):c.1165-15C>A	rs7128146	0.13983
NM_181507.1(HPS5):c.-251C>A	rs4150530	0.13814
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met)	rs7128017	0.13791
NM_181507.2(HPS5):c.*1068T>A	rs112456564	0.02934
NM_181507.2(HPS5):c.*443T>A	rs74602396	0.02704
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile)	rs61884288	0.02435
NM_181507.2(HPS5):c.*702A>T	rs79086536	0.01677
NM_181507.2(HPS5):c.-142C>T	rs4150528	0.00857
NM_181507.1(HPS5):c.-250G>T	rs4150529	0.00728
NM_181507.2(HPS5):c.2441-8T>C	rs144196437	0.00654
NM_181507.2(HPS5):c.-91C>G	rs4150527	0.00513
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu)	rs144875223	0.00297
NM_181507.2(HPS5):c.1635-4C>G	rs79009787	0.00229
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp)	rs75482179	0.00056
NM_181507.2(HPS5):c.1324-20dup	rs369116404

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