Variants in gene HPS4 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)	rs149830675	0.00306
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)	rs140234219	0.00153
NM_022081.6(HPS4):c.445A>G (p.Asn149Asp)	rs140430822	0.00151
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu)	rs61729175	0.00112
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg)	rs148134252	0.00092
NM_022081.6(HPS4):c.*5C>T	rs373741660	0.00072
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala)	rs150057646	0.00011
NM_022081.6(HPS4):c.373C>G (p.Leu125Val)	rs180729981	0.00009
NM_022081.6(HPS4):c.1857G>A (p.Pro619=)	rs373421312	0.00005
NM_022081.6(HPS4):c.13A>G (p.Thr5Ala)	rs570371168	0.00004
NM_022081.6(HPS4):c.2040C>T (p.Ser680=)	rs752931351	0.00001
NM_022081.6(HPS4):c.860G>C (p.Gly287Ala)	rs571151621

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