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

Submission 1 (likely benign) minimum review status:		Submission 1 (likely benign) 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp)	rs142893758	0.00290
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)	rs139061260	0.00144
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)	rs148978269	0.00133
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp)	rs145042327	0.00065
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr)	rs17109853	0.00054
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)	rs148225281	0.00042
NM_000195.5(HPS1):c.700C>T (p.Leu234=)	rs150444975	0.00039
NM_000195.5(HPS1):c.778C>T (p.Arg260Trp)	rs564590745	0.00008
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln)	rs147125175	0.00007
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val)	rs569192835	0.00005
NM_000195.5(HPS1):c.1531C>A (p.Arg511=)	rs147748659
NM_000195.5(HPS1):c.1653T>G (p.Thr551=)	rs765995574
NM_000195.5(HPS1):c.1744-5C>T	rs369429846
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)	rs1554892764

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