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

Submission 1 (likely benign) minimum review status:		Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status:		Submission 2 (benign) 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000195.5(HPS1):c.11T>C (p.Val4Ala)	rs58548334	0.03653
NM_000195.5(HPS1):c.255+9A>G	rs78927693	0.00885
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln)	rs56378825	0.00761
NM_000195.5(HPS1):c.1698G>A (p.Ser566=)	rs148450315	0.00596
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp)	rs7914192	0.00426
NM_000195.5(HPS1):c.*12C>T	rs112544050	0.00352
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)	rs112337765	0.00297
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp)	rs142893758	0.00290
NM_000195.5(HPS1):c.1532+5G>A	rs199874645	0.00273
NM_000195.5(HPS1):c.678C>T (p.Ala226=)	rs539822608	0.00155
NM_000195.5(HPS1):c.669-17T>C	rs201014731	0.00143
NM_000195.5(HPS1):c.557C>T (p.Ala186Val)	rs1801286	0.00125
NM_000195.5(HPS1):c.1533-5G>C	rs369658421	0.00016
NM_000195.5(HPS1):c.2052C>T (p.Ala684=)	rs576260502	0.00002
NM_000195.5(HPS1):c.1057C>T (p.Leu353=)	rs200850713	0.00001
NM_000195.5(HPS1):c.1397+7_1397+8delinsCT	rs886038270
NM_000195.5(HPS1):c.848G>C (p.Gly283Ala)	rs74154475

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