ClinVar Miner

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

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Total variants: 2
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NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_152841.2(HPS4):c.261+5G>A rs1602079277

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