ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_024747.5(HPS6):c.155del (p.Val52fs) rs1590262450
NM_024747.5(HPS6):c.1624del (p.Asp542fs) rs1590263807
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.283del (p.Val95fs) rs1564899012

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