List of variants in gene HPS3 reported as 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_032383.5(HPS3):c.1494G>A (p.Gln498=)	rs6440589	0.50726
NM_032383.5(HPS3):c.981A>G (p.Thr327=)	rs11718908	0.28006
NM_032383.5(HPS3):c.1479G>A (p.Thr493=)	rs34197730	0.03245
NM_032383.5(HPS3):c.970+7A>G	rs114029765	0.02580
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg)	rs78336249	0.01058
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)	rs34388030	0.00590
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val)	rs149640235	0.00498
NM_032383.5(HPS3):c.2055G>A (p.Leu685=)	rs140443498	0.00300
NM_032383.5(HPS3):c.1152C>T (p.His384=)	rs113381494	0.00060
NM_032383.5(HPS3):c.884+7T>C	rs202215373	0.00058
NM_032383.5(HPS3):c.2196C>T (p.His732=)	rs148398659	0.00028
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)	rs559550536	0.00007

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