List of variants in gene HPS6 reported as uncertain significance by Genetics and Molecular Pathology, SA Pathology

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp)	rs376165374	0.00016
NM_024747.6(HPS6):c.1267C>T (p.Pro423Ser)	rs2540987790	0.00001
NM_024747.6(HPS6):c.1274A>T (p.Glu425Val)	rs2540987801	0.00001

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