ClinVar Miner

List of variants in gene HPS3 reported as pathogenic for Hermansky-Pudlak syndrome without pulmonary fibrosis

Included ClinVar conditions (3):

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)
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Total variants: 5

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HGVS	dbSNP
HPS3, 89-BP INS
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1163+1G>A	rs201227603
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)	rs121908316
NM_032383.5(HPS3):c.1691+2T>G	rs281865093

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