ClinVar Miner

List of variants in gene F5 studied for Factor V deficiency

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.5419+12A>G rs6009 0.92435
NM_000130.5(F5):c.*1115C>T rs2040444 0.48344
NM_000130.5(F5):c.552G>T (p.Ser184=) rs6022 0.33707
NM_000130.5(F5):c.3804T>C (p.Ser1268=) rs1800594 0.33303
NM_000130.5(F5):c.405G>A (p.Ala135=) rs6029 0.30714
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.29522
NM_000130.5(F5):c.*1601C>T rs2187952 0.25334
NM_000130.5(F5):c.2208C>T (p.Ile736=) rs6016 0.24147
NM_000130.5(F5):c.2594A>G (p.His865Arg) rs4525 0.24141
NM_000130.5(F5):c.2301A>G (p.Ser767=) rs6021 0.24140
NM_000130.5(F5):c.2773A>G (p.Lys925Glu) rs6032 0.24133
NM_000130.5(F5):c.2235T>C (p.Asn745=) rs6017 0.23336
NM_000130.5(F5):c.237A>G (p.Gln79=) rs6028 0.22486
NM_000130.5(F5):c.3948C>T (p.Leu1316=) rs9287090 0.21875
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile) rs1046712 0.16155
NM_000130.5(F5):c.319G>C (p.Asp107His) rs6019 0.14054
NM_000130.5(F5):c.1538G>A (p.Arg513Lys) rs6020 0.11893
NM_000130.5(F5):c.1380C>T (p.Asn460=) rs6015 0.06377
NM_000130.5(F5):c.1716G>A (p.Glu572=) rs6036 0.06356
NM_000130.5(F5):c.1238T>C (p.Met413Thr) rs6033 0.06350
NM_000130.5(F5):c.1926C>A (p.Thr642=) rs6037 0.06314
NM_000130.5(F5):c.730+7C>T rs6023 0.05754
NM_000130.5(F5):c.*1820A>C rs72708013 0.05470
NM_000130.5(F5):c.*1246C>T rs9332676 0.05464
NM_000130.5(F5):c.*873C>T rs9332673 0.05461
NM_000130.5(F5):c.2450A>C (p.Asn817Thr) rs6018 0.05391
NM_000130.5(F5):c.2289A>G (p.Glu763=) rs6024 0.05387
NM_000130.5(F5):c.3980A>G (p.His1327Arg) rs1800595 0.05074
NM_000130.5(F5):c.5022A>G (p.Gly1674=) rs6010 0.04908
NM_000130.5(F5):c.4210C>T (p.Pro1404Ser) rs9332608 0.04654
NM_000130.5(F5):c.4189C>T (p.Leu1397Phe) rs13306334 0.03498
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701 0.03115
NM_000130.5(F5):c.2425C>T (p.Pro809Ser) rs6031 0.02430
NM_000130.5(F5):c.3438C>G (p.His1146Gln) rs6005 0.02373
NM_000130.5(F5):c.*1118G>A rs9332675 0.02056
NM_000130.5(F5):c.43G>A (p.Gly15Ser) rs9332485 0.01876
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000130.5(F5):c.2925C>T (p.Pro975=) rs41272457 0.01542
NM_000130.5(F5):c.2743A>T (p.Thr915Ser) rs9332695 0.01344
NM_000130.5(F5):c.*476C>T rs72708017 0.01259
NM_000130.5(F5):c.816C>T (p.Asn272=) rs9332578 0.01203
NM_000130.5(F5):c.5460G>A (p.Met1820Ile) rs6026 0.00789
NM_000130.5(F5):c.*376A>T rs76510731 0.00746
NM_000130.5(F5):c.158+13T>C rs116416322 0.00733
NM_000130.5(F5):c.*1488T>C rs75764442 0.00676
NM_000130.5(F5):c.*1290G>A rs9332677 0.00480
NM_000130.5(F5):c.3845A>G (p.His1282Arg) rs143333036 0.00389
NM_000130.5(F5):c.4035A>G (p.Gln1345=) rs886045547 0.00377
NM_000130.5(F5):c.6309G>A (p.Leu2103=) rs35369423 0.00361
NM_000130.5(F5):c.2906A>G (p.Asn969Ser) rs9332604 0.00302
NM_000130.5(F5):c.*891A>G rs9332674 0.00298
NM_000130.5(F5):c.3751T>C (p.Leu1251=) rs1403856375 0.00287
NM_000130.5(F5):c.*2037G>A rs550454517 0.00246
NM_000130.5(F5):c.3776C>A (p.Ser1259Tyr) rs150104888 0.00246
NM_000130.5(F5):c.*581C>A rs180742904 0.00227
NM_000130.5(F5):c.*216T>A rs186962725 0.00188
NM_000130.5(F5):c.*396C>A rs181328696 0.00188
NM_000130.5(F5):c.*363T>G rs115882472 0.00187
NM_000130.5(F5):c.6193+7T>A rs185294741 0.00156
NM_000130.5(F5):c.1539A>G (p.Arg513=) rs140627208 0.00148
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) rs6011 0.00144
NM_000130.5(F5):c.5245C>G (p.Leu1749Val) rs6034 0.00144
NM_000130.5(F5):c.3851C>T (p.Thr1284Ile) rs139573207 0.00142
NM_000130.5(F5):c.2222A>G (p.Asn741Ser) rs144979314 0.00140
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala) rs6007 0.00140
NM_000130.5(F5):c.-40T>C rs41272465 0.00121
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00113
NM_000130.5(F5):c.*441C>T rs188490117 0.00105
NM_000130.5(F5):c.*598T>G rs544753372 0.00081
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro) rs144262027 0.00081
NM_000130.5(F5):c.3504A>C (p.Thr1168=) rs13306332 0.00077
NM_000130.5(F5):c.1021C>T (p.Arg341Cys) rs200532195 0.00076
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser) rs141977229 0.00075
NM_000130.5(F5):c.5431A>T (p.Met1811Leu) rs138877178 0.00074
NM_000130.5(F5):c.1785G>A (p.Glu595=) rs112333778 0.00066
NM_000130.5(F5):c.*1912C>T rs865812546 0.00063
NM_000130.5(F5):c.3211C>T (p.His1071Tyr) rs146408488 0.00062
NM_000130.5(F5):c.5589C>A (p.Pro1863=) rs148772659 0.00061
NM_000130.5(F5):c.-84G>A rs543172813 0.00053
NM_000130.5(F5):c.885C>T (p.Thr295=) rs148752831 0.00048
NM_000130.5(F5):c.5558G>T (p.Gly1853Val) rs182566496 0.00039
NM_000130.5(F5):c.1391C>T (p.Thr464Ile) rs141768227 0.00038
NM_000130.5(F5):c.4835A>T (p.Asp1612Val) rs141589936 0.00035
NM_000130.5(F5):c.1158A>G (p.Gln386=) rs148623862 0.00029
NM_000130.5(F5):c.5490G>A (p.Leu1830=) rs149092241 0.00029
NM_000130.5(F5):c.566C>T (p.Pro189Leu) rs141800405 0.00027
NM_000130.5(F5):c.4309A>T (p.Thr1437Ser) rs115148599 0.00026
NM_000130.5(F5):c.996A>C (p.Lys332Asn) rs143509841 0.00026
NM_000130.5(F5):c.2868T>C (p.Tyr956=) rs149067268 0.00025
NM_000130.5(F5):c.2864G>T (p.Ser955Ile) rs199507543 0.00021
NM_000130.5(F5):c.*1780G>T rs559071301 0.00020
NM_000130.5(F5):c.5124C>T (p.Tyr1708=) rs199568344 0.00019
NM_000130.5(F5):c.1297-13T>C rs372389170 0.00018
NM_000130.5(F5):c.*838T>C rs376103455 0.00016
NM_000130.5(F5):c.4972-14A>C rs763080313 0.00016
NM_000130.5(F5):c.524A>G (p.His175Arg) rs201510575 0.00016
NM_000130.5(F5):c.628C>A (p.Gln210Lys) rs144937515 0.00016
NM_000130.5(F5):c.*1237G>A rs979200861 0.00014
NM_000130.5(F5):c.*2053G>C rs886045534 0.00014
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala) rs200204656 0.00014
NM_000130.5(F5):c.437G>A (p.Arg146Gln) rs145625079 0.00014
NM_000130.5(F5):c.3949G>A (p.Gly1317Ser) rs149048805 0.00013
NM_000130.5(F5):c.4347G>A (p.Pro1449=) rs145732153 0.00013
NM_000130.5(F5):c.*1776A>G rs567224548 0.00012
NM_000130.5(F5):c.1128G>T (p.Arg376Ser) rs373172802 0.00010
NM_000130.5(F5):c.2037C>G (p.Phe679Leu) rs374118662 0.00010
NM_000130.5(F5):c.3089G>A (p.Arg1030Gln) rs758795781 0.00010
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg) rs146312772 0.00010
NM_000130.5(F5):c.*1432C>T rs886045536 0.00009
NM_000130.5(F5):c.5177G>A (p.Arg1726Gln) rs369516642 0.00009
NM_000130.5(F5):c.*1170G>A rs191866237 0.00006
NM_000130.5(F5):c.*149C>G rs534748300 0.00006
NM_000130.5(F5):c.*1715T>G rs763562497 0.00006
NM_000130.5(F5):c.*288T>C rs116921763 0.00006
NM_000130.5(F5):c.*75G>A rs1001647624 0.00006
NM_000130.5(F5):c.*762G>A rs753366128 0.00006
NM_000130.5(F5):c.1106C>T (p.Ala369Val) rs200934105 0.00006
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro) rs369276714 0.00006
NM_000130.5(F5):c.5534A>G (p.His1845Arg) rs200865371 0.00006
NM_000130.5(F5):c.*1404G>A rs950549168 0.00005
NM_000130.5(F5):c.*1433G>A rs1324064139 0.00005
NM_000130.5(F5):c.1033C>T (p.Arg345Trp) rs746260106 0.00005
NM_000130.5(F5):c.1300G>A (p.Val434Met) rs574610215 0.00005
NM_000130.5(F5):c.165T>C (p.Asn55=) rs781434840 0.00005
NM_000130.5(F5):c.3801T>C (p.Leu1267=) rs559683767 0.00005
NM_000130.5(F5):c.6589A>G (p.Ile2197Val) rs372005449 0.00005
NM_000130.5(F5):c.*1857G>A rs145683103 0.00004
NM_000130.5(F5):c.1624A>G (p.Ile542Val) rs776949074 0.00004
NM_000130.5(F5):c.2862del (p.Ser955fs) rs765982916 0.00004
NM_000130.5(F5):c.586+11C>A rs199638362 0.00004
NM_000130.5(F5):c.6241C>G (p.Gln2081Glu) rs201142225 0.00004
NM_000130.5(F5):c.*1132A>G rs185213313 0.00003
NM_000130.5(F5):c.*1257A>C rs527497923 0.00003
NM_000130.5(F5):c.1034G>A (p.Arg345Gln) rs201078171 0.00003
NM_000130.5(F5):c.4699_4702dup (p.Ala1568fs) rs773569662 0.00003
NM_000130.5(F5):c.738A>G (p.Thr246=) rs375739973 0.00003
NM_000130.5(F5):c.886G>A (p.Ala296Thr) rs748350385 0.00003
NM_000130.5(F5):c.1321C>T (p.Arg441Cys) rs747006175 0.00002
NM_000130.5(F5):c.281T>C (p.Val94Ala) rs751093518 0.00002
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu) rs373880789 0.00002
NM_000130.5(F5):c.5729C>T (p.Pro1910Leu) rs200805004 0.00002
NM_000130.5(F5):c.911G>A (p.Gly304Glu) rs865947251 0.00002
NM_000130.5(F5):c.*1043T>A rs991084730 0.00001
NM_000130.5(F5):c.*1613A>G rs939304311 0.00001
NM_000130.5(F5):c.*390C>T rs886045538 0.00001
NM_000130.5(F5):c.*872C>T rs922113998 0.00001
NM_000130.5(F5):c.1545C>T (p.Ile515=) rs886045551 0.00001
NM_000130.5(F5):c.1659G>A (p.Glu553=) rs370739570 0.00001
NM_000130.5(F5):c.1674C>A (p.Tyr558Ter) rs905672088 0.00001
NM_000130.5(F5):c.2321G>C (p.Gly774Ala) rs547915978 0.00001
NM_000130.5(F5):c.276T>G (p.Ala92=) rs769639191 0.00001
NM_000130.5(F5):c.3255A>C (p.Thr1085=) rs6006 0.00001
NM_000130.5(F5):c.3481C>T (p.Arg1161Ter) rs118203909 0.00001
NM_000130.5(F5):c.3810C>G (p.Ala1270=) rs781657137 0.00001
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys) rs538359973 0.00001
NM_000130.5(F5):c.5000C>T (p.Pro1667Leu) rs200157005 0.00001
NM_000130.5(F5):c.5001G>A (p.Pro1667=) rs747456938 0.00001
NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys) rs118203907 0.00001
NM_000130.5(F5):c.5332G>C (p.Glu1778Gln) rs886045544 0.00001
NM_000130.5(F5):c.5365C>T (p.Arg1789Ter) rs201790842 0.00001
NM_000130.5(F5):c.538G>A (p.Glu180Lys) rs143152035 0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg) rs754104059 0.00001
NM_000130.5(F5):c.5788+4A>T rs759428783 0.00001
NM_000130.5(F5):c.5933C>T (p.Thr1978Ile) rs768425862 0.00001
NM_000130.5(F5):c.6164G>A (p.Arg2055Gln) rs886045542 0.00001
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp) rs1384690038 0.00001
NM_000130.5(F5):c.6298C>T (p.Arg2100Cys) rs775843029 0.00001
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys) rs118203910 0.00001
NM_000130.5(F5):c.6360G>A (p.Lys2120=) rs757104503 0.00001
NM_000130.5(F5):c.6459T>C (p.Tyr2153=) rs773618429 0.00001
NM_000130.5(F5):c.6644G>A (p.Arg2215His) rs952196842 0.00001
NM_000130.5(F5):c.936C>T (p.Thr312=) rs758832130 0.00001
NM_000130.4(F5):c.-110C>A rs886045552
NM_000130.5(F5):c.*104A>C rs886045540
NM_000130.5(F5):c.*1301A>T rs1557902119
NM_000130.5(F5):c.*1436T>A rs9332678
NM_000130.5(F5):c.*1531C>T rs1659060074
NM_000130.5(F5):c.*157A>T rs886045539
NM_000130.5(F5):c.*1699G>T rs537882111
NM_000130.5(F5):c.*1939T>C rs886045535
NM_000130.5(F5):c.*2148C>T rs369159875
NM_000130.5(F5):c.*2328G>C rs6427196
NM_000130.5(F5):c.*2351C>A rs542773186
NM_000130.5(F5):c.*366A>G rs1659095114
NM_000130.5(F5):c.*400C>G rs886045537
NM_000130.5(F5):c.1042_1049del (p.Lys348fs) rs2101829195
NM_000130.5(F5):c.111T>A (p.Ala37=) rs537081933
NM_000130.5(F5):c.1189_1197del (p.Thr397_Tyr399del)
NM_000130.5(F5):c.1297-2A>G rs762646464
NM_000130.5(F5):c.1321C>G (p.Arg441Gly) rs747006175
NM_000130.5(F5):c.1340C>G (p.Pro447Arg) rs368387623
NM_000130.5(F5):c.1498T>G (p.Cys500Gly) rs1571581722
NM_000130.5(F5):c.1546G>T (p.Ala516Ser) rs916286148
NM_000130.5(F5):c.158+8A>C rs1571608314
NM_000130.5(F5):c.1671G>C (p.Trp557Cys) rs1571578995
NM_000130.5(F5):c.1673A>G (p.Tyr558Cys)
NM_000130.5(F5):c.1830_1831dup (p.His611fs) rs1571577365
NM_000130.5(F5):c.1975G>A (p.Gly659Arg) rs759167620
NM_000130.5(F5):c.2042A>G (p.Asp681Gly) rs886045550
NM_000130.5(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.5(F5):c.2232G>C (p.Leu744Phe) rs2101820303
NM_000130.5(F5):c.2234A>G (p.Asn745Ser) rs2101820299
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del) rs575766548
NM_000130.5(F5):c.2401C>T (p.Gln801Ter) rs118203908
NM_000130.5(F5):c.2521C>T (p.Gln841Ter)
NM_000130.5(F5):c.2539del (p.Ile847fs) rs1571575520
NM_000130.5(F5):c.2615del (p.Arg872fs) rs2101819850
NM_000130.5(F5):c.2837G>T (p.Arg946Ile) rs2101819634
NM_000130.5(F5):c.3170_3174del (p.Asn1057fs) rs1571574574
NM_000130.5(F5):c.3261C>G (p.Pro1087=) rs886045549
NM_000130.5(F5):c.3269A>G (p.Asp1090Gly) rs1659859528
NM_000130.5(F5):c.3307A>T (p.Asn1103Tyr) rs886045548
NM_000130.5(F5):c.3311C>A (p.Ser1104Tyr) rs188882337
NM_000130.5(F5):c.333C>A (p.Ser111Arg) rs1571598716
NM_000130.5(F5):c.3455A>C (p.Glu1152Ala) rs543751483
NM_000130.5(F5):c.3577del (p.Gln1192_Val1193insTer) rs2101818861
NM_000130.5(F5):c.358A>G (p.Ser120Gly) rs1571598694
NM_000130.5(F5):c.3674C>A (p.Ala1225Asp) rs2101818750
NM_000130.5(F5):c.3691A>C (p.Ile1231Leu) rs1338927825
NM_000130.5(F5):c.374G>A (p.Gly125Asp) rs760694648
NM_000130.5(F5):c.3865T>C (p.Phe1289Leu) rs781371990
NM_000130.5(F5):c.3924_3927del (p.Ser1308fs) rs2101818393
NM_000130.5(F5):c.3961A>C (p.Ile1321Leu) rs112331368
NM_000130.5(F5):c.3995T>C (p.Leu1332Pro) rs1241060030
NM_000130.5(F5):c.4000T>C (p.Phe1334Leu) rs147741798
NM_000130.5(F5):c.4013A>C (p.Asn1338Thr) rs1418336095
NM_000130.5(F5):c.4082C>T (p.Pro1361Leu) rs200676405
NM_000130.5(F5):c.4096del (p.Leu1366fs) rs1659825695
NM_000130.5(F5):c.4172T>C (p.Met1391Thr) rs771458343
NM_000130.5(F5):c.4297C>T (p.Leu1433Phe) rs2101817787
NM_000130.5(F5):c.4356C>A (p.Ser1452Arg) rs751749207
NM_000130.5(F5):c.4744T>A (p.Tyr1582Asn) rs1571572228
NM_000130.5(F5):c.4959T>A (p.Asp1653Glu) rs886045546
NM_000130.5(F5):c.5022del (p.Leu1675fs) rs2101811710
NM_000130.5(F5):c.5144G>A (p.Arg1715Gln) rs1194089741
NM_000130.5(F5):c.5209-12_5209-11del rs886045545
NM_000130.5(F5):c.522C>T (p.Ser174=) rs777533725
NM_000130.5(F5):c.5308G>A (p.Val1770Ile) rs374815777
NM_000130.5(F5):c.5403_5404insG (p.Ser1802fs) rs2101810760
NM_000130.5(F5):c.5403del (p.Lys1801fs)
NM_000130.5(F5):c.5419+11C>G rs6008
NM_000130.5(F5):c.5419+11C>T rs6008
NM_000130.5(F5):c.5594T>G (p.Leu1865Arg) rs1659497927
NM_000130.5(F5):c.5646G>A (p.Trp1882Ter) rs1557908012
NM_000130.5(F5):c.564G>C (p.Gly188=) rs1557573
NM_000130.5(F5):c.5721T>C (p.Cys1907=) rs886045543
NM_000130.5(F5):c.5780A>G (p.Glu1927Gly) rs1659399281
NM_000130.5(F5):c.5789-7A>C rs1659369778
NM_000130.5(F5):c.6010T>C (p.Trp2004Arg) rs2101806568
NM_000130.5(F5):c.6122T>G (p.Ile2041Ser) rs1364834534
NM_000130.5(F5):c.6629A>T (p.Gln2210Leu) rs886045541
NM_000130.5(F5):c.696C>A (p.Tyr232Ter)
NM_000130.5(F5):c.773T>C (p.Leu258Pro) rs975505802
NM_000130.5(F5):c.986G>A (p.Cys329Tyr) rs574459300

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