ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 6
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HGVS dbSNP
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg) rs1591045080
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter) rs1591002808
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser) rs756325364
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) rs780183200
NM_152841.2(HPS4):c.261+5G>A rs1602079277

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