List of variants in gene HPS4 reported as likely benign for Hermansky-Pudlak syndrome with pulmonary fibrosis

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_022081.6(HPS4):c.-530A>G	rs3747137	0.11724
NM_022081.6(HPS4):c.558G>A (p.Ser186=)	rs13054747	0.03591
NM_022081.6(HPS4):c.1899C>T (p.Val633=)	rs35993959	0.01542
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)	rs34962745	0.00686
NM_022081.6(HPS4):c.*1850G>A	rs143168600	0.00441
NM_022081.6(HPS4):c.710C>T (p.Ala237Val)	rs77597168	0.00411
NM_022081.6(HPS4):c.*1589C>A	rs117397456	0.00354
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)	rs149830675	0.00306
NM_022081.6(HPS4):c.1883G>A (p.Arg628His)	rs78892693	0.00242
NM_022081.6(HPS4):c.696G>A (p.Pro232=)	rs3747132	0.00237
NM_022081.6(HPS4):c.15C>T (p.Thr5=)	rs144622501	0.00193
NM_022081.6(HPS4):c.*1253G>A	rs534586940	0.00161
NM_022081.6(HPS4):c.-185A>G	rs188205202	0.00154
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)	rs140234219	0.00149
NM_022081.6(HPS4):c.-585T>G	rs187762406	0.00105
NM_022081.6(HPS4):c.-395A>C	rs147631281	0.00047
NM_022081.6(HPS4):c.*751G>A	rs190837977	0.00045
NM_022081.6(HPS4):c.1060_1061delinsAG (p.Ser354=)	rs386820399

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