ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 3 by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_032383.5(HPS3):c.2150T>A (p.Ile717Asn) rs2108168208

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