List of variants in gene combination CP, HPS3 reported as benign for Hermansky-Pudlak syndrome 3

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.2887+81G>A	rs2681096	0.98243
NM_032383.5(HPS3):c.2796+50C>T	rs2681092	0.46501
NM_000096.4(CP):c.*769G>A	rs1053669	0.19723
NM_032383.5(HPS3):c.2526C>T (p.His842=)	rs3732557	0.15600
NM_032383.5(HPS3):c.*172G>A	rs34511277	0.11672
NM_032383.5(HPS3):c.*128A>G	rs73019023	0.11195
NM_000096.4(CP):c.*1157C>T	rs11537809	0.02347
NM_000096.4(CP):c.*768T>C	rs35805816	0.01348
NM_000096.4(CP):c.*509A>C	rs13098532	0.00867
NM_000096.4(CP):c.*474T>C	rs34936395	0.00559
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile)	rs150765088	0.00002

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