ClinVar Miner

List of variants in gene HPS4 reported as pathogenic for Hermansky-Pudlak syndrome 1

Included ClinVar conditions (2):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)	rs119471023	0.00004
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)	rs369053765

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