Variants in gene HPS1 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 3

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HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys)	rs775570414	0.00011
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)	rs138771756	0.00004
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)	rs748106098

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