ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome 3 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 10
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HGVS dbSNP
NM_000096.4(CP):c.*259C>T
NM_000096.4(CP):c.*879A>C rs144029944
NM_032383.5(HPS3):c.*170C>T rs182666670
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717

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