ClinVar Miner

List of variants in gene HPS5 reported as uncertain significance for Hermansky-Pudlak syndrome

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Total variants: 6
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NM_007216.4(HPS5):c.*1003_*1004del rs886048070
NM_007216.4(HPS5):c.1879_1881ACA[1] (p.Thr628del) rs886048077
NM_007216.4(HPS5):c.483-14del rs886048082
NM_181507.1(HPS5):c.2200C>T (p.Arg734Trp) rs752089199
NM_181507.1(HPS5):c.2718-12A>G rs759757206
NM_181507.2(HPS5):c.2837+15del rs886048076

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