ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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