ClinVar Miner

List of variants reported as likely pathogenic for Hermansky-Pudlak syndrome 9 by Laboratoire de Génétique Moléculaire, CHU Bordeaux

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288

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