List of variants in gene combination CP, HPS3 reported as pathogenic for hereditary skin disorder

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.2888-1612G>A	rs281865096	0.00007
NM_032383.5(HPS3):c.2589+1G>T	rs281865095	0.00002
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter)	rs369855073	0.00001
NM_032383.5(HPS3):c.2482-2A>G	rs397507168	0.00001
NM_032383.5(HPS3):c.2589+2T>C	rs1411572278	0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer)	rs765169755	0.00001
NM_032383.5(HPS3):c.2424G>A (p.Trp808Ter)
NM_032383.5(HPS3):c.2463dup (p.Arg822fs)	rs1576695913
NM_032383.5(HPS3):c.2589+1G>C	rs281865095
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs)	rs1277509410
NM_032383.5(HPS3):c.2766T>G (p.Tyr922Ter)
NM_032383.5(HPS3):c.2814dup (p.Leu939fs)	rs1576708708

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