List of variants in gene HPS4 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 11

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HGVS	dbSNP	gnomAD frequency
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.1222G>A (p.Ala408Thr)	rs143711674	0.00012
NM_022081.6(HPS4):c.553C>T (p.Arg185Cys)	rs369104384	0.00011
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.2000A>G (p.Glu667Gly)	rs368602340	0.00004
NM_022081.6(HPS4):c.1309C>T (p.His437Tyr)	rs1569060760	0.00001
NM_022081.6(HPS4):c.2040C>T (p.Ser680=)	rs752931351	0.00001
NM_022081.6(HPS4):c.533G>T (p.Arg178Leu)	rs377042228

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