ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Total variants: 4

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HGVS	dbSNP
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)	rs281865163
NM_000195.5(HPS1):c.972dup (p.Met325fs)	rs281865082
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter)	rs369053765
NM_032383.5(HPS3):c.1163+1G>A	rs201227603

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