ClinVar Miner

List of variants studied for Thrombophilia due to activated protein C resistance by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00113
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser) rs141977229 0.00075
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp) rs1384690038 0.00001
NM_000130.5(F5):c.1777G>T (p.Val593Leu)
NM_000130.5(F5):c.244A>G (p.Ile82Val)
NM_000130.5(F5):c.6025G>T (p.Gly2009Trp)

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