ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 5 by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_181507.2(HPS5):c.2593C>T (p.Arg865Ter) rs281865104 0.00001
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.2026_2029del (p.Val676fs) rs281865103
NM_181507.2(HPS5):c.2624del (p.Leu875fs) rs281865105
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs) rs397507169
NM_181507.2(HPS5):c.879dup (p.Lys294fs) rs281865101

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