List of variants reported as benign for Hermansky-Pudlak syndrome 3 by Genome-Nilou Lab

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.2887+81G>A	rs2681096	0.98243
NM_032383.5(HPS3):c.1692-192T>G	rs772903	0.70831
NM_032383.5(HPS3):c.1164-139A>C	rs2254913	0.69958
NM_032383.5(HPS3):c.1494G>A (p.Gln498=)	rs6440589	0.50726
NM_032383.5(HPS3):c.2796+50C>T	rs2681092	0.46501
NM_032383.5(HPS3):c.2107-57A>G	rs61615092	0.44604
NM_032383.5(HPS3):c.1163+62T>G	rs11715291	0.28038
NM_032383.5(HPS3):c.981A>G (p.Thr327=)	rs11718908	0.28006
NM_032383.5(HPS3):c.2107-52A>G	rs57943258	0.17569
NM_032383.5(HPS3):c.1164-25C>T	rs2689232	0.17519
NM_032383.5(HPS3):c.2526C>T (p.His842=)	rs3732557	0.15600
NM_032383.5(HPS3):c.1479G>A (p.Thr493=)	rs34197730	0.03245
NM_032383.5(HPS3):c.970+7A>G	rs114029765	0.02580

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