ClinVar Miner

List of variants reported as pathogenic for Hermansky-Pudlak syndrome 3 by GeneReviews

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Total variants: 7
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NM_032383.5(HPS3):c.1163+1G>A rs201227603
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316
NM_032383.5(HPS3):c.1691+2T>G rs281865093
NM_032383.5(HPS3):c.2482-2A>G rs397507168
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2888-1612G>A rs281865096

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