ClinVar Miner

List of variants in gene HPS5 studied for Hermansky-Pudlak syndrome

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_181507.2(HPS5):c.2200C>T (p.Arg734Trp) rs752089199 0.00019
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_181507.2(HPS5):c.2718-12A>G rs759757206 0.00002
NM_181507.2(HPS5):c.2036C>G (p.Ser679Ter) rs779921624 0.00001
NM_181507.2(HPS5):c.543del (p.Gln181fs) rs755827664 0.00001
NM_181507.2(HPS5):c.825-14del rs886048082 0.00001
NM_181507.2(HPS5):c.*1003_*1004del rs886048070
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.2221ACA[1] (p.Thr742del) rs886048077
NM_181507.2(HPS5):c.2837+15del rs886048076
NM_181507.2(HPS5):c.2837+1G>A rs1253458479
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs) rs886041723
NM_181507.2(HPS5):c.478-2A>G rs2494158241
NM_181507.2(HPS5):c.739dup (p.Glu247fs) rs761811248
NM_181507.2(HPS5):c.82dup (p.Leu28fs) rs767560852

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