ClinVar Miner

List of variants reported as uncertain significance 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: 2

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.2888-1612G>A	rs281865096	0.00007
NM_032383.5(HPS3):c.2150T>A (p.Ile717Asn)	rs2108168208

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