ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome 3

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.*879A>C rs144029944 0.00863
NM_032383.5(HPS3):c.*170C>T rs182666670 0.00795
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_000096.4(CP):c.*259C>T rs192321084 0.00414
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280 0.00024
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515 0.00014
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432 0.00008
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00007
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717 0.00002
NM_032383.5(HPS3):c.2967T>C (p.Phe989=) rs1170514296 0.00001

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