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

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: 16

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HGVS	dbSNP	gnomAD frequency
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.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.1479G>A (p.Thr493=)	rs34197730	0.03245
NM_032383.5(HPS3):c.970+7A>G	rs114029765	0.02580
NM_032383.5(HPS3):c.-70T>C	rs13089410	0.02214
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.158A>G (p.Gln53Arg)	rs199663930	0.00036
NM_032383.5(HPS3):c.2196C>T (p.His732=)	rs148398659	0.00028

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