ClinVar Miner

List of variants in gene HPS3 reported as likely pathogenic for Hermansky-Pudlak syndrome

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Total variants: 2
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NM_032383.5(HPS3):c.124G>T (p.Glu42Ter) rs1553750097
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) rs780183200

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