ClinVar Miner

List of variants in gene F5 reported as uncertain significance for Thrombophilia due to activated protein C resistance

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Gene type:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.*476C>T rs72708017 0.01259
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.*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.5054C>G (p.Thr1685Ser) rs6011 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.-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.5446C>T (p.Pro1816Ser) rs141977229 0.00075
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.5490G>A (p.Leu1830=) rs149092241 0.00029
NM_000130.5(F5):c.4309A>T (p.Thr1437Ser) rs115148599 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.*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.*1776A>G rs567224548 0.00012
NM_000130.5(F5):c.1128G>T (p.Arg376Ser) rs373172802 0.00010
NM_000130.5(F5):c.*1432C>T rs886045536 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.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.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.*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.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.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.*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.*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.112G>A (p.Ala38Thr)
NM_000130.5(F5):c.1284A>T (p.Arg428Ser)
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.1700G>A (p.Cys567Tyr)
NM_000130.5(F5):c.1777G>T (p.Val593Leu)
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.244A>G (p.Ile82Val)
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.4013A>C (p.Asn1338Thr) rs1418336095
NM_000130.5(F5):c.4281G>A (p.Met1427Ile)
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.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.6025G>T (p.Gly2009Trp)
NM_000130.5(F5):c.6629A>T (p.Gln2210Leu) rs886045541

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