ClinVar Miner

List of variants studied for Hereditary factor XI deficiency disease by Illumina Laboratory Services, Illumina

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.*479A>T rs1062547 0.40400
NM_000128.4(F11):c.*296G>C rs4253430 0.39990
NM_000128.3(F11):c.-316C>G rs3733403 0.18163
NM_000128.4(F11):c.*265A>G rs4253429 0.16938
NM_000128.4(F11):c.*852G>A rs4253431 0.16273
NM_000128.4(F11):c.1191T>C (p.Gly397=) rs5970 0.16228
NM_000128.4(F11):c.801A>G (p.Thr267=) rs5974 0.16187
NM_000128.4(F11):c.*322G>A rs4253865 0.07317
NM_000128.4(F11):c.1812G>T (p.Arg604=) rs5971 0.06917
NM_000128.4(F11):c.429C>T (p.Asp143=) rs5973 0.06445
NM_000128.4(F11):c.1839G>A (p.Glu613=) rs5976 0.04596
NM_000128.4(F11):c.1707C>T (p.Asp569=) rs5975 0.02893
NM_000128.4(F11):c.*885G>A rs4253432 0.01236
NM_000128.4(F11):c.-54G>A rs4253814 0.01170
NM_000128.4(F11):c.*551A>T rs186377697 0.00654
NM_000128.4(F11):c.1016G>T (p.Cys339Phe) rs5967 0.00586
NM_000128.4(F11):c.731A>G (p.Gln244Arg) rs5969 0.00564
NM_000128.4(F11):c.*404A>G rs139159299 0.00471
NM_000128.4(F11):c.*1A>G rs143899287 0.00378
NM_000128.4(F11):c.1304+12G>A rs116667976 0.00295
NM_000128.4(F11):c.453C>T (p.Tyr151=) rs34807019 0.00248
NM_000128.4(F11):c.*175C>T rs148610742 0.00153
NM_000128.4(F11):c.1305-9G>T rs4253426 0.00153
NM_000128.4(F11):c.861C>T (p.Ile287=) rs5964 0.00107
NM_000128.4(F11):c.1020C>T (p.Asn340=) rs149052026 0.00100
NM_000128.4(F11):c.*822A>G rs558079340 0.00067
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.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000128.4(F11):c.*928G>A rs556465646 0.00043
NM_000128.4(F11):c.539A>G (p.Lys180Arg) rs190283743 0.00036
NM_000128.4(F11):c.*728T>C rs566734345 0.00033
NM_000128.4(F11):c.*584A>T rs766777099 0.00024
NM_000128.4(F11):c.*884C>T rs117035365 0.00024
NM_000128.4(F11):c.1029-11T>C rs373348576 0.00021
NM_000128.4(F11):c.1028+9T>C rs376630194 0.00020
NM_000128.4(F11):c.1431C>T (p.Ser477=) rs149568223 0.00016
NM_000128.4(F11):c.1843G>A (p.Val615Met) rs202061241 0.00016
NM_000128.4(F11):c.596-6G>A rs369721182 0.00015
NM_000128.4(F11):c.*902G>A rs555668089 0.00010
NM_000128.4(F11):c.*346A>G rs1033944547 0.00009
NM_000128.4(F11):c.1305-14T>C rs199761451 0.00009
NM_000128.4(F11):c.*952G>A rs886059303 0.00008
NM_000128.4(F11):c.1200G>A (p.Pro400=) rs150377265 0.00007
NM_000128.3(F11):c.-183T>C rs886059297 0.00006
NM_000128.4(F11):c.-57G>A rs1043431996 0.00006
NM_000128.4(F11):c.1480+4C>T rs370328133 0.00006
NM_000128.4(F11):c.1836C>T (p.Val612=) rs775708833 0.00006
NM_000128.4(F11):c.219-11T>A rs886059298 0.00006
NM_000128.4(F11):c.642C>T (p.Asn214=) rs372572261 0.00006
NM_000128.4(F11):c.*576G>A rs886059301 0.00005
NM_000128.4(F11):c.*186C>T rs142128633 0.00004
NM_000128.4(F11):c.345T>C (p.Tyr115=) rs766137229 0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000128.4(F11):c.56-6T>C rs374122923 0.00004
NM_000128.4(F11):c.1716+1G>A rs373297713 0.00003
NM_000128.4(F11):c.478G>T (p.Glu160Ter) rs376961859 0.00003
NM_000128.4(F11):c.*1033A>G rs886059305 0.00002
NM_000128.4(F11):c.-70G>A rs755606015 0.00002
NM_000128.4(F11):c.1219A>G (p.Thr407Ala) rs369822221 0.00002
NM_000128.4(F11):c.1842C>T (p.Tyr614=) rs143588436 0.00002
NM_000128.4(F11):c.696T>C (p.His232=) rs746382259 0.00002
NM_000128.3(F11):c.-326C>G rs753031984 0.00001
NM_000128.4(F11):c.*448A>G rs368132203 0.00001
NM_000128.4(F11):c.*763T>A rs576164426 0.00001
NM_000128.4(F11):c.*817A>G rs1441037997 0.00001
NM_000128.4(F11):c.*846T>C rs988525367 0.00001
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr) rs779802284 0.00001
NM_000128.4(F11):c.1416T>C (p.Tyr472=) rs1053472547 0.00001
NM_000128.4(F11):c.499C>T (p.Leu167=) rs374761594 0.00001
NM_000128.3(F11):c.-164G>A rs1739485056
NM_000128.3(F11):c.-233C>T rs1263431242
NM_000128.3(F11):c.-300C>T rs886059296
NM_000128.4(F11):c.*1039G>A rs1741449262
NM_000128.4(F11):c.*174C>T rs1741399736
NM_000128.4(F11):c.*262A>G rs886059300
NM_000128.4(F11):c.*445C>T rs1741414677
NM_000128.4(F11):c.*609C>A rs938214207
NM_000128.4(F11):c.*636A>G rs886059302
NM_000128.4(F11):c.*933C>G rs982607401
NM_000128.4(F11):c.*974ATT[1] rs886059304
NM_000128.4(F11):c.1321del (p.Ile441fs)
NM_000128.4(F11):c.1481-1G>T rs1057516506
NM_000128.4(F11):c.1777A>G (p.Thr593Ala) rs1741382224

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