ClinVar Miner

List of variants reported as pathogenic for Protein S deficiency disease 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_000313.4(PROS1):c.-39C>T	rs2107279407
NM_000313.4(PROS1):c.139G>T (p.Glu47Ter)	rs1709034856
NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs)	rs2107125195

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