ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 1 by Johns Hopkins Genomics,Johns Hopkins University

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Total variants: 2
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NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.54A>G (p.Thr18=) rs531947687

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