ClinVar Miner

List of variants in gene F11 studied for not provided

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Gene type:
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Total variants: 178
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HGVS dbSNP
GRCh37/hg19 4q35.2(chr4:187182119-187216375)x1
NC_000004.12:g.(?_186265841)_(186288624_?)del
NC_000004.12:g.(?_186287674)_(186287834_?)dup
NM_000128.3(F11):c.-54G>A rs4253814
NM_000128.3(F11):c.100G>C (p.Asp34His) rs281875267
NM_000128.3(F11):c.1016G>T (p.Cys339Phe) rs5967
NM_000128.3(F11):c.1021G>A (p.Glu341Lys) rs281875270
NM_000128.3(F11):c.1028+9T>C rs376630194
NM_000128.3(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.3(F11):c.1079T>C (p.Leu360Pro) rs281875254
NM_000128.3(F11):c.1136-7_1136-4del rs1439195599
NM_000128.3(F11):c.1191T>C (p.Gly397=) rs5970
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.1201T>C (p.Trp401Arg) rs281875262
NM_000128.3(F11):c.1207G>A (p.Val403Met) rs281875266
NM_000128.3(F11):c.1275_1281dup (p.Thr428fs) rs1580098946
NM_000128.3(F11):c.127G>A (p.Ala43Thr) rs281875264
NM_000128.3(F11):c.1288G>A (p.Ala430Thr) rs753909969
NM_000128.3(F11):c.1305-5C>T rs375998777
NM_000128.3(F11):c.1305-9G>T rs4253426
NM_000128.3(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.3(F11):c.1361T>A (p.Ile454Lys) rs281875241
NM_000128.3(F11):c.137G>T (p.Cys46Phe) rs281875271
NM_000128.3(F11):c.1431C>T (p.Ser477=) rs149568223
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
NM_000128.3(F11):c.1442T>G (p.Ile481Ser) rs281875242
NM_000128.3(F11):c.1489C>T (p.Arg497Ter) rs375422404
NM_000128.3(F11):c.1507T>C (p.Ser503Pro) rs140068026
NM_000128.3(F11):c.1517A>G (p.Asp506Gly) rs281875258
NM_000128.3(F11):c.151A>C (p.Thr51Pro) rs281875243
NM_000128.3(F11):c.152C>T (p.Thr51Ile) rs281875252
NM_000128.3(F11):c.1531T>C (p.Tyr511His) rs281875278
NM_000128.3(F11):c.1541G>T (p.Cys514Phe) rs281875249
NM_000128.3(F11):c.1556G>A (p.Trp519Ter) rs201007090
NM_000128.3(F11):c.1560G>T (p.Gly520=) rs794727084
NM_000128.3(F11):c.1578C>G (p.Asp526Glu) rs281875263
NM_000128.3(F11):c.159C>A (p.His53Gln) rs281875261
NM_000128.3(F11):c.166T>C (p.Cys56Arg) rs121965069
NM_000128.3(F11):c.1693G>A (p.Glu565Lys) rs281875275
NM_000128.3(F11):c.1707C>T (p.Asp569=) rs5975
NM_000128.3(F11):c.1716+1G>A rs373297713
NM_000128.3(F11):c.1724C>T (p.Ser575Leu) rs281875250
NM_000128.3(F11):c.1789G>A (p.Glu597Lys) rs281875251
NM_000128.3(F11):c.1812G>T (p.Arg604=) rs5971
NM_000128.3(F11):c.1822T>C (p.Tyr608His) rs281875255
NM_000128.3(F11):c.1839G>A (p.Glu613=) rs5976
NM_000128.3(F11):c.1853T>G (p.Ile618Ser) rs281875276
NM_000128.3(F11):c.188C>T (p.Ala63Val) rs281875244
NM_000128.3(F11):c.218+4A>G rs767240420
NM_000128.3(F11):c.302A>G (p.Lys101Arg) rs281875272
NM_000128.3(F11):c.325G>A (p.Ala109Thr) rs768474112
NM_000128.3(F11):c.3G>T (p.Met1Ile) rs755700350
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.419G>A (p.Cys140Tyr) rs281875256
NM_000128.3(F11):c.429C>T (p.Asp143=) rs5973
NM_000128.3(F11):c.438C>A (p.Cys146Ter) rs121965066
NM_000128.3(F11):c.452A>G (p.Tyr151Cys) rs281875273
NM_000128.3(F11):c.484C>T (p.Arg162Cys) rs748139184
NM_000128.3(F11):c.486-2A>G rs1057516695
NM_000128.3(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000128.3(F11):c.67C>T (p.Gln23Ter) rs768409400
NM_000128.3(F11):c.682C>T (p.Arg228Ter) rs752907087
NM_000128.3(F11):c.683G>A (p.Arg228Gln) rs281875246
NM_000128.3(F11):c.723C>G (p.Phe241Leu) rs281875265
NM_000128.3(F11):c.730C>T (p.Gln244Ter) rs747702749
NM_000128.3(F11):c.731A>G (p.Gln244Arg) rs5969
NM_000128.3(F11):c.738G>C (p.Trp246Cys) rs281875279
NM_000128.3(F11):c.755G>C (p.Arg252Thr) rs281875260
NM_000128.3(F11):c.764G>A (p.Cys255Tyr) rs281875277
NM_000128.3(F11):c.788G>A (p.Gly263Glu) rs281875274
NM_000128.3(F11):c.801A>G (p.Thr267=) rs5974
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000128.3(F11):c.827C>G (p.Ser276Cys) rs281875247
NM_000128.3(F11):c.830G>A (p.Gly277Asp) rs281875248
NM_000128.3(F11):c.841C>T (p.Gln281Ter) rs770505620
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000128.3(F11):c.908del (p.Gly303fs) rs786204722
NM_000128.3(F11):c.943G>A (p.Glu315Lys) rs281875257
NM_000128.3(F11):c.94G>A (p.Gly32Arg) rs281875259
NM_000128.3(F11):c.959T>C (p.Leu320Pro) rs281875268
NM_000128.3(F11):c.965C>T (p.Thr322Ile) rs281875269
NM_000128.3(F11):c.992C>T (p.Thr331Ile) rs281875253
NM_000128.4(F11):c.1008A>G (p.Gln336=) rs376999986
NM_000128.4(F11):c.1017C>A (p.Cys339Ter)
NM_000128.4(F11):c.1020C>T (p.Asn340=) rs149052026
NM_000128.4(F11):c.1028+9T>G
NM_000128.4(F11):c.1056A>G (p.Ser352=)
NM_000128.4(F11):c.1059C>T (p.Asn353=)
NM_000128.4(F11):c.1083C>T (p.His361=)
NM_000128.4(F11):c.1116G>A (p.Arg372=) rs1432809135
NM_000128.4(F11):c.111G>A (p.Thr37=) rs762996950
NM_000128.4(F11):c.114C>T (p.Val38=)
NM_000128.4(F11):c.1158C>G (p.Pro386=)
NM_000128.4(F11):c.1179G>A (p.Ala393=)
NM_000128.4(F11):c.117C>T (p.Phe39=)
NM_000128.4(F11):c.1224C>T (p.Thr408=)
NM_000128.4(F11):c.1254C>G (p.Gly418=)
NM_000128.4(F11):c.1255T>A (p.Ser419Thr)
NM_000128.4(F11):c.126C>T (p.Ser42=) rs754973084
NM_000128.4(F11):c.1287C>A (p.Ala429=)
NM_000128.4(F11):c.1287C>T (p.Ala429=) rs138122638
NM_000128.4(F11):c.1304+12G>A
NM_000128.4(F11):c.1305-10T>G
NM_000128.4(F11):c.1324T>C (p.Leu442=)
NM_000128.4(F11):c.132G>A (p.Lys44=)
NM_000128.4(F11):c.1449del (p.Leu483fs)
NM_000128.4(F11):c.1465del (p.Thr489fs)
NM_000128.4(F11):c.1481-188C>T rs2289252
NM_000128.4(F11):c.1518T>C (p.Asp506=)
NM_000128.4(F11):c.1519A>C (p.Arg507=)
NM_000128.4(F11):c.1521A>G (p.Arg507=)
NM_000128.4(F11):c.1525G>A (p.Val509Ile)
NM_000128.4(F11):c.1560G>A (p.Gly520=)
NM_000128.4(F11):c.1599G>A (p.Gln533=)
NM_000128.4(F11):c.159C>T (p.His53=)
NM_000128.4(F11):c.1626C>T (p.Asn542=)
NM_000128.4(F11):c.162A>G (p.Pro54=)
NM_000128.4(F11):c.1716+7G>A
NM_000128.4(F11):c.1717-7G>A rs778179698
NM_000128.4(F11):c.1717-8C>T
NM_000128.4(F11):c.1725G>A (p.Ser575=)
NM_000128.4(F11):c.1746A>G (p.Lys582=)
NM_000128.4(F11):c.1767G>T (p.Leu589=)
NM_000128.4(F11):c.1779G>A (p.Thr593=)
NM_000128.4(F11):c.1782C>T (p.Ser594=)
NM_000128.4(F11):c.1788C>T (p.Gly596=)
NM_000128.4(F11):c.1830C>T (p.Asn610=)
NM_000128.4(F11):c.1836C>T (p.Val612=)
NM_000128.4(F11):c.1842C>T (p.Tyr614=)
NM_000128.4(F11):c.1843G>A (p.Val615Met) rs202061241
NM_000128.4(F11):c.1858G>C (p.Glu620Gln)
NM_000128.4(F11):c.186G>C (p.Thr62=)
NM_000128.4(F11):c.188C>G (p.Ala63Gly) rs281875244
NM_000128.4(F11):c.189G>T (p.Ala63=)
NM_000128.4(F11):c.196C>T (p.Pro66Ser) rs144595035
NM_000128.4(F11):c.218+7G>A
NM_000128.4(F11):c.219-10A>T
NM_000128.4(F11):c.301_307dup (p.Cys103Ter)
NM_000128.4(F11):c.325+10G>A
NM_000128.4(F11):c.325+1G>A
NM_000128.4(F11):c.330C>T (p.Cys110=)
NM_000128.4(F11):c.434A>G (p.His145Arg)
NM_000128.4(F11):c.449_450del (p.Thr150fs)
NM_000128.4(F11):c.450G>A (p.Thr150=)
NM_000128.4(F11):c.453C>T (p.Tyr151=) rs34807019
NM_000128.4(F11):c.485+7G>A
NM_000128.4(F11):c.486-10T>A rs370991682
NM_000128.4(F11):c.507C>T (p.His169=) rs367559663
NM_000128.4(F11):c.537G>A (p.Thr179=)
NM_000128.4(F11):c.539A>G (p.Lys180Arg) rs190283743
NM_000128.4(F11):c.543C>T (p.Leu181=)
NM_000128.4(F11):c.56-6T>C
NM_000128.4(F11):c.581C>T (p.Ala194Val) rs1580079656
NM_000128.4(F11):c.595+10G>A
NM_000128.4(F11):c.595+3A>G rs933333847
NM_000128.4(F11):c.596-10C>T
NM_000128.4(F11):c.596-5C>T
NM_000128.4(F11):c.596-6G>A rs369721182
NM_000128.4(F11):c.596-9G>A
NM_000128.4(F11):c.606G>A (p.Arg202=)
NM_000128.4(F11):c.642C>T (p.Asn214=)
NM_000128.4(F11):c.654C>A (p.Val218=)
NM_000128.4(F11):c.663C>T (p.Pro221=) rs142846329
NM_000128.4(F11):c.687C>T (p.Ile229=)
NM_000128.4(F11):c.696T>C (p.His232=) rs746382259
NM_000128.4(F11):c.755+10T>G
NM_000128.4(F11):c.756-5G>A
NM_000128.4(F11):c.797G>A (p.Ser266Asn) rs145168351
NM_000128.4(F11):c.840A>G (p.Leu280=)
NM_000128.4(F11):c.861C>T (p.Ile287=) rs5964
NM_000128.4(F11):c.865+1G>A
NM_000128.4(F11):c.866-8C>T
NM_000128.4(F11):c.866-9G>A rs200218867
NM_000128.4(F11):c.942C>T (p.His314=)
NM_000128.4(F11):c.948C>G (p.Ala316=)
NM_000128.4(F11):c.96A>C (p.Gly32=) rs368183250

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