List of variants in gene HPS1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)	rs139061260	0.00144
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)	rs148225281	0.00042
NM_000195.5(HPS1):c.15G>C (p.Leu5Phe)	rs146695034	0.00031
NM_000195.5(HPS1):c.242A>T (p.Tyr81Phe)	rs188320187	0.00010
NM_000195.5(HPS1):c.277G>A (p.Ala93Thr)	rs574738945	0.00002
NM_000195.5(HPS1):c.1531C>A (p.Arg511=)	rs147748659
NM_000195.5(HPS1):c.1718C>G (p.Pro573Arg)	rs372351461
NM_000195.5(HPS1):c.1744-5C>T	rs369429846
NM_000195.5(HPS1):c.655G>T (p.Ala219Ser)	rs755619001

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