ClinVar Miner

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

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Total variants: 2
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HGVS dbSNP
NM_007216.4(HPS5):c.201del (p.Gln67fs) rs755827664
NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs) rs886041723

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