ClinVar Miner

List of variants in gene F11 studied for Plasma factor XI deficiency

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Total variants: 41
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HGVS dbSNP
NM_000128.3(F11):c.1028+9T>C rs376630194
NM_000128.3(F11):c.1199C>T (p.Pro400Leu) rs533335580
NM_000128.3(F11):c.1200G>A (p.Pro400=) rs150377265
NM_000128.3(F11):c.1305-9G>T rs4253426
NM_000128.3(F11):c.1431C>T (p.Ser477=) rs149568223
NM_000128.3(F11):c.1489C>T (p.Arg497Ter) rs375422404
NM_000128.3(F11):c.166T>C (p.Cys56Arg) rs121965069
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.403G>T (p.Glu135Ter) rs121965063
NM_000128.3(F11):c.731A>G (p.Gln244Arg) rs5969
NM_000128.3(F11):c.841C>T (p.Gln281Ter) rs770505620
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000128.4(F11):c.-459A>G
NM_000128.4(F11):c.-57G>A
NM_000128.4(F11):c.1001C>T (p.Pro334Leu)
NM_000128.4(F11):c.1011A>G (p.Ala337=)
NM_000128.4(F11):c.1028+9T>G
NM_000128.4(F11):c.1059C>T (p.Asn353=)
NM_000128.4(F11):c.111G>A (p.Thr37=) rs762996950
NM_000128.4(F11):c.1174A>G (p.Thr392Ala)
NM_000128.4(F11):c.126C>T (p.Ser42=) rs754973084
NM_000128.4(F11):c.1287C>T (p.Ala429=) rs138122638
NM_000128.4(F11):c.1579A>G (p.Lys527Glu)
NM_000128.4(F11):c.1609A>T (p.Ile537Leu)
NM_000128.4(F11):c.1625A>G (p.Asn542Ser)
NM_000128.4(F11):c.1683C>T (p.Ala561=)
NM_000128.4(F11):c.1709C>G (p.Ala570Gly)
NM_000128.4(F11):c.1716+10del
NM_000128.4(F11):c.1767G>T (p.Leu589=)
NM_000128.4(F11):c.1843G>A (p.Val615Met) rs202061241
NM_000128.4(F11):c.291G>A (p.Gly97=)
NM_000128.4(F11):c.453C>T (p.Tyr151=) rs34807019
NM_000128.4(F11):c.486-10T>A rs370991682
NM_000128.4(F11):c.536C>T (p.Thr179Met)
NM_000128.4(F11):c.539A>G (p.Lys180Arg) rs190283743
NM_000128.4(F11):c.56-6T>C
NM_000128.4(F11):c.596-6G>A rs369721182
NM_000128.4(F11):c.696T>C (p.His232=) rs746382259
NM_000128.4(F11):c.797G>A (p.Ser266Asn) rs145168351
NM_000128.4(F11):c.852G>C (p.Arg284Ser)
NM_000128.4(F11):c.861C>T (p.Ile287=) rs5964

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