ClinVar Miner

List of variants in gene F5 studied for coagulation protein disease

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP
F5, 1-BP DEL, 2952T
F5, 1-BP INS, 5493G
F5, 4-BP DEL, EX13
F5, 4-BP INS, 2805ATTG
F5, 8-BP DEL, NT1131
NM_000130.4(F5):c.*104A>C rs886045540
NM_000130.4(F5):c.*1115C>T rs2040444
NM_000130.4(F5):c.*1118G>A rs9332675
NM_000130.4(F5):c.*1170G>A rs191866237
NM_000130.4(F5):c.*1246C>T rs9332676
NM_000130.4(F5):c.*1290G>A rs9332677
NM_000130.4(F5):c.*1432C>T rs886045536
NM_000130.4(F5):c.*1436T>A rs9332678
NM_000130.4(F5):c.*1488T>C rs75764442
NM_000130.4(F5):c.*149C>G rs534748300
NM_000130.4(F5):c.*157A>T rs886045539
NM_000130.4(F5):c.*1601C>T rs2187952
NM_000130.4(F5):c.*1780G>T rs559071301
NM_000130.4(F5):c.*1820A>C rs72708013
NM_000130.4(F5):c.*1939T>C rs886045535
NM_000130.4(F5):c.*2053G>C rs886045534
NM_000130.4(F5):c.*216T>A rs186962725
NM_000130.4(F5):c.*2328G>C rs6427196
NM_000130.4(F5):c.*363T>G rs115882472
NM_000130.4(F5):c.*390C>T rs886045538
NM_000130.4(F5):c.*396C>A rs181328696
NM_000130.4(F5):c.*400C>G rs886045537
NM_000130.4(F5):c.*441C>T rs188490117
NM_000130.4(F5):c.*476C>T rs72708017
NM_000130.4(F5):c.*581C>A rs180742904
NM_000130.4(F5):c.*598T>G rs544753372
NM_000130.4(F5):c.*762G>A rs753366128
NM_000130.4(F5):c.*838T>C rs376103455
NM_000130.4(F5):c.*873C>T rs9332673
NM_000130.4(F5):c.*891A>G rs9332674
NM_000130.4(F5):c.-110C>A rs886045552
NM_000130.4(F5):c.-40T>C rs41272465
NM_000130.4(F5):c.-84G>A rs543172813
NM_000130.4(F5):c.1001G>C (p.Arg334Thr) rs118203906
NM_000130.4(F5):c.1034G>A (p.Arg345Gln) rs201078171
NM_000130.4(F5):c.1106C>T (p.Ala369Val) rs200934105
NM_000130.4(F5):c.111T>A (p.Ala37=) rs537081933
NM_000130.4(F5):c.1160T>C (p.Ile387Thr) rs118203911
NM_000130.4(F5):c.1238T>C (p.Met413Thr) rs6033
NM_000130.4(F5):c.1242A>G (p.Lys414=) rs6035
NM_000130.4(F5):c.1297-2A>G
NM_000130.4(F5):c.1300G>A (p.Val434Met) rs574610215
NM_000130.4(F5):c.1321C>T (p.Arg441Cys) rs747006175
NM_000130.4(F5):c.1380C>T (p.Asn460=) rs6015
NM_000130.4(F5):c.1391C>T (p.Thr464Ile) rs141768227
NM_000130.4(F5):c.1498T>G (p.Cys500Gly)
NM_000130.4(F5):c.1538G>A (p.Arg513Lys) rs6020
NM_000130.4(F5):c.1545C>T (p.Ile515=) rs886045551
NM_000130.4(F5):c.158+13T>C rs116416322
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000130.4(F5):c.1624A>G (p.Ile542Val) rs776949074
NM_000130.4(F5):c.1659G>A (p.Glu553=) rs370739570
NM_000130.4(F5):c.165T>C (p.Asn55=) rs781434840
NM_000130.4(F5):c.1671G>C (p.Trp557Cys)
NM_000130.4(F5):c.1674C>A
NM_000130.4(F5):c.1716G>A (p.Glu572=) rs6036
NM_000130.4(F5):c.1785G>A (p.Glu595=) rs112333778
NM_000130.4(F5):c.1830_1831dup (p.His611fs)
NM_000130.4(F5):c.1926C>A (p.Thr642=) rs6037
NM_000130.4(F5):c.1975G>A (p.Gly659Arg)
NM_000130.4(F5):c.2042A>G (p.Asp681Gly) rs886045550
NM_000130.4(F5):c.2208C>T (p.Ile736=) rs6016
NM_000130.4(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.4(F5):c.2222A>G (p.Asn741Ser) rs144979314
NM_000130.4(F5):c.2235T>C (p.Asn745=) rs6017
NM_000130.4(F5):c.2241_2243AGA[2] (p.Glu750del) rs575766548
NM_000130.4(F5):c.2289A>G (p.Glu763=) rs6024
NM_000130.4(F5):c.2301A>G (p.Ser767=) rs6021
NM_000130.4(F5):c.237A>G (p.Gln79=) rs6028
NM_000130.4(F5):c.2401C>T (p.Gln801Ter) rs118203908
NM_000130.4(F5):c.2425C>T (p.Pro809Ser) rs6031
NM_000130.4(F5):c.2450A>C (p.Asn817Thr) rs6018
NM_000130.4(F5):c.2539del (p.Ile847fs)
NM_000130.4(F5):c.2573A>G (p.Lys858Arg) rs4524
NM_000130.4(F5):c.2594A>G (p.His865Arg) rs4525
NM_000130.4(F5):c.2743A>T (p.Thr915Ser) rs9332695
NM_000130.4(F5):c.2773A>G (p.Lys925Glu) rs6032
NM_000130.4(F5):c.2862del (p.Ser955fs)
NM_000130.4(F5):c.2864G>T (p.Ser955Ile) rs199507543
NM_000130.4(F5):c.2868T>C (p.Tyr956=) rs149067268
NM_000130.4(F5):c.2906A>G (p.Asn969Ser) rs9332604
NM_000130.4(F5):c.2925C>T (p.Pro975=) rs41272457
NM_000130.4(F5):c.3170_3174del (p.Asn1057fs)
NM_000130.4(F5):c.319G>C (p.Asp107His) rs6019
NM_000130.4(F5):c.3211C>T (p.His1071Tyr) rs146408488
NM_000130.4(F5):c.3255A>C (p.Thr1085=) rs6006
NM_000130.4(F5):c.3261C>G (p.Pro1087=) rs886045549
NM_000130.4(F5):c.3307A>T (p.Asn1103Tyr) rs886045548
NM_000130.4(F5):c.3311C>A (p.Ser1104Tyr) rs188882337
NM_000130.4(F5):c.333C>A (p.Ser111Arg)
NM_000130.4(F5):c.3402C>A (p.Asp1134Glu) rs373880789
NM_000130.4(F5):c.3438C>G (p.His1146Gln) rs6005
NM_000130.4(F5):c.3442T>C (p.Ser1148Pro) rs369276714
NM_000130.4(F5):c.3455A>C (p.Glu1152Ala) rs543751483
NM_000130.4(F5):c.3481C>T (p.Arg1161Ter) rs118203909
NM_000130.4(F5):c.3504A>C (p.Thr1168=) rs13306332
NM_000130.4(F5):c.358A>G (p.Ser120Gly)
NM_000130.4(F5):c.3801T>C (p.Leu1267=) rs559683767
NM_000130.4(F5):c.3804T>C (p.Ser1268=) rs1800594
NM_000130.4(F5):c.3851C>T (p.Thr1284Ile) rs139573207
NM_000130.4(F5):c.3853C>A (p.Leu1285Ile) rs1046712
NM_000130.4(F5):c.3948C>T (p.Leu1316=) rs9287090
NM_000130.4(F5):c.3949G>A (p.Gly1317Ser) rs149048805
NM_000130.4(F5):c.3980A>G (p.His1327Arg) rs1800595
NM_000130.4(F5):c.4035A>G (p.Gln1345=) rs886045547
NM_000130.4(F5):c.405G>A (p.Ala135=) rs6029
NM_000130.4(F5):c.4095C>T (p.Thr1365=) rs9332607
NM_000130.4(F5):c.4189C>T (p.Leu1397Phe) rs13306334
NM_000130.4(F5):c.4210C>T (p.Pro1404Ser) rs9332608
NM_000130.4(F5):c.4309A>T (p.Thr1437Ser) rs115148599
NM_000130.4(F5):c.4333A>G (p.Thr1445Ala) rs200204656
NM_000130.4(F5):c.4356C>A (p.Ser1452Arg) rs751749207
NM_000130.4(F5):c.437G>A (p.Arg146Gln) rs145625079
NM_000130.4(F5):c.439G>T (p.Glu147Ter) rs118203912
NM_000130.4(F5):c.43G>A (p.Gly15Ser) rs9332485
NM_000130.4(F5):c.4405T>C (p.Ser1469Pro) rs144262027
NM_000130.4(F5):c.4633C>A (p.Pro1545Thr)
NM_000130.4(F5):c.4744T>A (p.Tyr1582Asn)
NM_000130.4(F5):c.4835A>T (p.Asp1612Val) rs141589936
NM_000130.4(F5):c.4959T>A (p.Asp1653Glu) rs886045546
NM_000130.4(F5):c.4972-14A>C rs763080313
NM_000130.4(F5):c.5022A>G (p.Gly1674=) rs6010
NM_000130.4(F5):c.5054C>G (p.Thr1685Ser) rs6011
NM_000130.4(F5):c.5124C>T (p.Tyr1708=) rs199568344
NM_000130.4(F5):c.5189A>G (p.Tyr1730Cys) rs118203907
NM_000130.4(F5):c.5209-12_5209-11delCT rs886045545
NM_000130.4(F5):c.524A>G (p.His175Arg) rs201510575
NM_000130.4(F5):c.5265A>G (p.Ile1755Met)
NM_000130.4(F5):c.5290A>G (p.Met1764Val) rs6030
NM_000130.4(F5):c.5308G>A (p.Val1770Ile) rs374815777
NM_000130.4(F5):c.5332G>C (p.Glu1778Gln) rs886045544
NM_000130.4(F5):c.5365C>T (p.Arg1789Ter)
NM_000130.4(F5):c.538G>A (p.Glu180Lys) rs143152035
NM_000130.4(F5):c.5408A>G (p.His1803Arg)
NM_000130.4(F5):c.5419+11C>G rs6008
NM_000130.4(F5):c.5419+11C>T rs6008
NM_000130.4(F5):c.5419+12A>G rs6009
NM_000130.4(F5):c.5460G>A (p.Met1820Ile) rs6026
NM_000130.4(F5):c.5490G>A (p.Leu1830=) rs149092241
NM_000130.4(F5):c.552G>T (p.Ser184=) rs6022
NM_000130.4(F5):c.5534A>G (p.His1845Arg) rs200865371
NM_000130.4(F5):c.5558G>T (p.Gly1853Val) rs182566496
NM_000130.4(F5):c.5589C>A (p.Pro1863=) rs148772659
NM_000130.4(F5):c.5646G>A (p.Trp1882Ter) rs1557908012
NM_000130.4(F5):c.564G>C (p.Gly188=) rs1557573
NM_000130.4(F5):c.5721T>C (p.Cys1907=) rs886045543
NM_000130.4(F5):c.5788+4A>T rs759428783
NM_000130.4(F5):c.6164G>A (p.Arg2055Gln) rs886045542
NM_000130.4(F5):c.6304C>T (p.Arg2102Cys) rs118203910
NM_000130.4(F5):c.6309G>A (p.Leu2103=) rs35369423
NM_000130.4(F5):c.6360G>A (p.Lys2120=) rs757104503
NM_000130.4(F5):c.6443T>C (p.Met2148Thr) rs9332701
NM_000130.4(F5):c.6459T>C (p.Tyr2153=) rs773618429
NM_000130.4(F5):c.6589A>G (p.Ile2197Val) rs372005449
NM_000130.4(F5):c.6629A>T (p.Gln2210Leu) rs886045541
NM_000130.4(F5):c.6665A>G (p.Asp2222Gly) rs6027
NM_000130.4(F5):c.730+7C>T rs6023
NM_000130.4(F5):c.738A>G (p.Thr246=) rs375739973
NM_000130.4(F5):c.773T>C (p.Leu258Pro)
NM_000130.4(F5):c.816C>T (p.Asn272=) rs9332578
NM_000130.4(F5):c.885C>T (p.Thr295=) rs148752831
NM_000130.4(F5):c.886G>A (p.Ala296Thr) rs748350385
NM_000130.4(F5):c.911G>A (p.Gly304Glu)
NM_000130.4(F5):c.936C>T (p.Thr312=) rs758832130
NM_000130.4(F5):c.996A>C (p.Lys332Asn)

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