ClinVar Miner

List of variants in gene F5 studied for Budd-Chiari syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
Download table as spreadsheet
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.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_000130.5(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.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.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.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.738A>G (p.Thr246=) rs375739973 0.00003
NM_000130.5(F5):c.886G>A (p.Ala296Thr) rs748350385 0.00003
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.*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.276T>G (p.Ala92=) rs769639191 0.00001
NM_000130.5(F5):c.3255A>C (p.Thr1085=) rs6006 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.5001G>A (p.Pro1667=) rs747456938 0.00001
NM_000130.5(F5):c.5332G>C (p.Glu1778Gln) rs886045544 0.00001
NM_000130.5(F5):c.538G>A (p.Glu180Lys) rs143152035 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.6298C>T (p.Arg2100Cys) rs775843029 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.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.111T>A (p.Ala37=) rs537081933
NM_000130.5(F5):c.1340C>G (p.Pro447Arg) rs368387623
NM_000130.5(F5):c.1546G>T (p.Ala516Ser) rs916286148
NM_000130.5(F5):c.2042A>G (p.Asp681Gly) rs886045550
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del) rs575766548
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.3455A>C (p.Glu1152Ala) rs543751483
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.3961A>C (p.Ile1321Leu) rs112331368
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.4172T>C (p.Met1391Thr) rs771458343
NM_000130.5(F5):c.4356C>A (p.Ser1452Arg) rs751749207
NM_000130.5(F5):c.4959T>A (p.Asp1653Glu) rs886045546
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.5419+11C>G rs6008
NM_000130.5(F5):c.5419+11C>T rs6008
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.6629A>T (p.Gln2210Leu) rs886045541

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.