ClinVar Miner

List of variants reported as likely pathogenic for Reduced protein C activity by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000312.4(PROC):c.1019C>T (p.Thr340Met) rs766261022 0.00001
NM_000312.4(PROC):c.759C>A (p.His253Gln) rs1458669732 0.00001
NM_000312.4(PROC):c.508G>T (p.Asp170Tyr) rs2104954946
NM_000312.4(PROC):c.659G>C (p.Arg220Pro) rs121918153
NM_000312.4(PROC):c.752C>A (p.Ala251Glu) rs568121876

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