List of variants in gene HPS5 reported as pathogenic 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_181507.2(HPS5):c.543del (p.Gln181fs)	rs755827664	0.00001
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs)	rs886041723
NM_181507.2(HPS5):c.739dup (p.Glu247fs)	rs761811248
NM_181507.2(HPS5):c.82dup (p.Leu28fs)	rs767560852

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