List of variants in gene combination CP, HPS3 reported as likely 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.2589+1G>T	rs281865095	0.00002
NM_032383.5(HPS3):c.2589+2T>C	rs1411572278	0.00001
NM_032383.5(HPS3):c.2796+2T>C	rs1476066527	0.00001
NC_000003.11:g.(148847728_148857790)_(148890984_?)del
NM_032383.5(HPS3):c.2463dup (p.Arg822fs)	rs1576695913
NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs)

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