ClinVar Miner

List of variants in gene HPS6 reported as likely pathogenic for Hermansky-Pudlak syndrome

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Total variants: 4
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HGVS dbSNP
NM_024747.5(HPS6):c.1649del (p.Gly550fs) rs1590263820
NM_024747.5(HPS6):c.706_707delTC rs756471925
NM_024747.5(HPS6):c.779G>A (p.Gly260Glu) rs1478574193
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser) rs756325364

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