List of variants in gene HPS1 reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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_000195.5(HPS1):c.636C>T (p.Leu212=)	rs1801287	0.25851
NM_000195.5(HPS1):c.1599-15A>G	rs2296435	0.21496
NM_000195.5(HPS1):c.1397+7G>C	rs2296432	0.20947
NM_000195.5(HPS1):c.1397+8G>T	rs2296433	0.20935
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg)	rs2296436	0.09989
NM_000195.5(HPS1):c.297C>T (p.Thr99=)	rs11539873	0.04930
NM_000195.5(HPS1):c.987+13T>C	rs12571249	0.04438
NM_000195.5(HPS1):c.11T>C (p.Val4Ala)	rs58548334	0.03653
NM_000195.5(HPS1):c.1698G>A (p.Ser566=)	rs148450315	0.00596
NM_000195.5(HPS1):c.597C>T (p.Pro199=)	rs113520308	0.00382
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg)	rs2296434
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp)	rs11592273

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