ClinVar Miner

List of variants reported as uncertain significance for Hereditary factor XI deficiency disease by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.1328G>A (p.Arg443His) rs373212439 0.00006
NM_000128.4(F11):c.1481-9T>A rs372283197 0.00001
NM_000128.4(F11):c.374A>G (p.Tyr125Cys) rs1554082187 0.00001
NM_000128.3(F11):c.-153T>G rs2126696047
NM_000128.4(F11):c.1049T>C (p.Leu350Pro) rs2126759475
NM_000128.4(F11):c.1138T>C (p.Cys380Arg)
NM_000128.4(F11):c.1388T>A (p.Val463Asp)
NM_000128.4(F11):c.1633T>C (p.Cys545Arg)
NM_000128.4(F11):c.1852A>G (p.Ile618Val) rs2126791743
NM_000128.4(F11):c.55+6T>G rs1739571881
NM_000128.4(F11):c.560G>T (p.Gly187Val) rs1740324523
NM_000128.4(F11):c.719C>T (p.Thr240Ile)
NM_000128.4(F11):c.791T>G (p.Leu264Trp)
NM_000128.4(F11):c.89T>C (p.Phe30Ser)
Single allele

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