ClinVar Miner

List of variants studied for Factor V deficiency by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) rs6011 0.00144
NM_000130.5(F5):c.5245C>G (p.Leu1749Val) rs6034 0.00144
NM_000130.5(F5):c.911G>A (p.Gly304Glu) rs865947251 0.00002
NM_000130.5(F5):c.2321G>C (p.Gly774Ala) rs547915978 0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg) rs754104059 0.00001
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp) rs1384690038 0.00001
NM_000130.5(F5):c.6644G>A (p.Arg2215His) rs952196842 0.00001
NM_000130.5(F5):c.1321C>G (p.Arg441Gly) rs747006175
NM_000130.5(F5):c.2401C>T (p.Gln801Ter) rs118203908
NM_000130.5(F5):c.5403del (p.Lys1801fs)
NM_000130.5(F5):c.6122T>G (p.Ile2041Ser) rs1364834534
NM_000130.5(F5):c.696C>A (p.Tyr232Ter)
NM_000130.5(F5):c.986G>A (p.Cys329Tyr) rs574459300

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