List of variants in gene HPS3 reported as likely 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)	rs34388030	0.00590
NM_032383.5(HPS3):c.2055G>A (p.Leu685=)	rs140443498	0.00300
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met)	rs148168280	0.00024
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr)	rs142027515	0.00014
NM_032383.5(HPS3):c.1228A>G (p.Met410Val)	rs756295432	0.00008
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)	rs559550536	0.00007

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