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

Minimum submission review status:		Collection method:
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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.2526C>T (p.His842=)	rs3732557	0.15600
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala)	rs144099522	0.00038
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile)	rs150765088	0.00002
NM_000096.4(CP):c.*828dup	rs35907111
NM_032383.5(HPS3):c.2887+18_2887+19dup	rs397710976
NM_032383.5(HPS3):c.2887+19dup	rs397710976

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