ClinVar Miner

List of variants in gene F11 reported as pathogenic

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Gene type:
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Total variants: 93
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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.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) rs139695003 0.00010
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000128.4(F11):c.943G>A (p.Glu315Lys) rs281875257 0.00006
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000128.4(F11):c.802C>T (p.Arg268Cys) rs763496524 0.00005
NM_000128.4(F11):c.1778C>T (p.Thr593Met) rs145906668 0.00004
NM_000128.4(F11):c.325+1G>A rs140190776 0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) rs773905328 0.00003
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.325G>A (p.Ala109Thr) rs768474112 0.00002
NM_000128.4(F11):c.682C>T (p.Arg228Ter) rs752907087 0.00002
NM_000128.4(F11):c.738G>A (p.Trp246Ter) rs281875279 0.00002
NM_000128.4(F11):c.976C>T (p.Arg326Cys) rs28934608 0.00002
NM_000128.4(F11):c.1026G>T (p.Gly342=) rs768894507 0.00001
NM_000128.4(F11):c.1060G>A (p.Gly354Arg) rs777714867 0.00001
NM_000128.4(F11):c.1136-7_1136-4del rs1439195599 0.00001
NM_000128.4(F11):c.1186C>T (p.Arg396Cys) rs771896253 0.00001
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr) rs779802284 0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.1378T>G (p.Phe460Val) rs121965065 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.1608G>C (p.Lys536Asn) rs774280710 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NM_000128.4(F11):c.326-1G>A rs1057517364 0.00001
NM_000128.4(F11):c.365G>A (p.Gly122Asp) rs369650561 0.00001
NM_000128.4(F11):c.408C>A (p.Cys136Ter) rs143648758 0.00001
NM_000128.4(F11):c.419G>A (p.Cys140Tyr) rs281875256 0.00001
NM_000128.4(F11):c.595+3A>G rs933333847 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000128.4(F11):c.730C>T (p.Gln244Ter) rs747702749 0.00001
NM_000128.4(F11):c.755+2T>C rs1220869989 0.00001
NM_000128.4(F11):c.841C>T (p.Gln281Ter) rs770505620 0.00001
NC_000004.11:g.(?_187186995)_(187188355_?)del
NC_000004.11:g.(?_187201156)_(187201744_?)del
NC_000004.11:g.(?_187208828)_(187208988_?)del
NC_000004.12:g.(186261554_186262508)_(?_186293752)del
NC_000004.12:g.(?_186265841)_(186288624_?)del
NM_000128.4(F11):c.-1-4_11del
NM_000128.4(F11):c.1006C>T (p.Gln336Ter) rs2126758583
NM_000128.4(F11):c.1016_1017delinsAA (p.Cys339Ter)
NM_000128.4(F11):c.1017C>A (p.Cys339Ter) rs745901569
NM_000128.4(F11):c.1029-2A>G rs1024865708
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1103G>A (p.Gly368Glu)
NM_000128.4(F11):c.1204C>T (p.Gln402Ter) rs1741002305
NM_000128.4(F11):c.1211C>A (p.Thr404Asn) rs121965067
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1235_1236insAA (p.His414fs) rs2126773212
NM_000128.4(F11):c.1275_1281dup (p.Thr428fs) rs1580098946
NM_000128.4(F11):c.1289C>T (p.Ala430Val) rs121965068
NM_000128.4(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000128.4(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.4(F11):c.1367del (p.Glu456fs)
NM_000128.4(F11):c.1369_1370dup (p.Asp457fs)
NM_000128.4(F11):c.1390C>T (p.Gln464Ter) rs1057517035
NM_000128.4(F11):c.1443del (p.Ile481fs) rs778810767
NM_000128.4(F11):c.1449del (p.Leu483fs) rs1741165195
NM_000128.4(F11):c.1465del (p.Thr489fs) rs1561490982
NM_000128.4(F11):c.1512del (p.Gly505fs)
NM_000128.4(F11):c.1557G>C (p.Trp519Cys)
NM_000128.4(F11):c.1627G>T (p.Glu543Ter)
NM_000128.4(F11):c.168T>A (p.Cys56Ter)
NM_000128.4(F11):c.16C>T (p.Gln6Ter) rs1554081288
NM_000128.4(F11):c.1726G>T (p.Gly576Ter)
NM_000128.4(F11):c.1746del (p.Lys582fs) rs2126791111
NM_000128.4(F11):c.1760G>C (p.Trp587Ser) rs121965072
NM_000128.4(F11):c.1772G>A (p.Gly591Asp)
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.4(F11):c.1822T>C (p.Tyr608His) rs281875255
NM_000128.4(F11):c.219G>A (p.Trp73Ter) rs762013077
NM_000128.4(F11):c.301_307dup (p.Cys103Ter) rs1740105027
NM_000128.4(F11):c.304C>T (p.Gln102Ter)
NM_000128.4(F11):c.433del (p.His145fs)
NM_000128.4(F11):c.449_450del (p.Thr150fs) rs1740201702
NM_000128.4(F11):c.485+5G>C rs1173748968
NM_000128.4(F11):c.55+1del
NM_000128.4(F11):c.586del (p.Ser196fs)
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del) rs1459304265
NM_000128.4(F11):c.688T>A (p.Cys230Ser)
NM_000128.4(F11):c.727dup (p.Ser243fs)
NM_000128.4(F11):c.760_761insAGATG (p.Leu254fs)
NM_000128.4(F11):c.769del (p.Thr259fs) rs1554082832
NM_000128.4(F11):c.908del (p.Gly303fs) rs786204722
NM_000128.4(F11):c.961_962del (p.Cys321fs) rs786204449
NM_000128.4(F11):c.979del (p.Cys327fs)
NM_000128.4(F11):c.981C>A (p.Cys327Ter)
Single allele

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