ClinVar Miner

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

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_022081.6(HPS4):c.*1589C>A rs117397456
NM_022081.6(HPS4):c.-530A>G rs3747137
NM_022081.6(HPS4):c.1899C>T (p.Val633=) rs35993959
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747
NM_022081.6(HPS4):c.696G>A (p.Pro232=) rs3747132

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