ClinVar Miner

List of variants studied 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: 32
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000128.4(F11):c.1328G>A (p.Arg443His) rs373212439 0.00006
NM_000128.4(F11):c.1778C>T (p.Thr593Met) rs145906668 0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.1716+1G>A rs373297713 0.00003
NM_000128.4(F11):c.1060G>A (p.Gly354Arg) rs777714867 0.00001
NM_000128.4(F11):c.1199C>T (p.Pro400Leu) rs533335580 0.00001
NM_000128.4(F11):c.1207G>A (p.Val403Met) rs281875266 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1481-9T>A rs372283197 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 0.00001
NM_000128.4(F11):c.374A>G (p.Tyr125Cys) rs1554082187 0.00001
NM_000128.4(F11):c.616C>T (p.Pro206Ser) rs779123395 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.1305-2A>G
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.325+1G>T
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)
NM_000128.4(F11):c.908del (p.Gly303fs) rs786204722
NM_000128.4(F11):c.973G>T (p.Val325Phe) rs764711007
Single allele

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