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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000096.4(CP):c.2991T>C (p.His997=)	rs34394958	0.03057
NM_000096.4(CP):c.*137C>T	rs34228141	0.02012
NM_000096.4(CP):c.*879A>C	rs144029944	0.00863
NM_000096.4(CP):c.3182-4A>G	rs34272112	0.00805
NM_032383.5(HPS3):c.*170C>T	rs182666670	0.00795
NM_000096.4(CP):c.*259C>T	rs192321084	0.00414
NM_032383.5(HPS3):c.2364A>G (p.Ala788=)	rs149563235	0.00034
NM_032383.5(HPS3):c.2469A>G (p.Thr823=)	rs370137287	0.00010
NM_032383.5(HPS3):c.2634G>A (p.Pro878=)	rs147593958	0.00003
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys)	rs543058717	0.00002
NM_032383.5(HPS3):c.2967T>C (p.Phe989=)	rs1170514296	0.00001
NM_032383.5(HPS3):c.2479C>T (p.Leu827=)	rs773017257

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