ClinVar Miner

List of variants reported as uncertain significance for coagulation protein disease

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 566
Download table as spreadsheet
HGVS dbSNP
NM_000128.3(F11):c.*1033A>G rs886059305
NM_000128.3(F11):c.*262A>G rs886059300
NM_000128.3(F11):c.*576G>A rs886059301
NM_000128.3(F11):c.*584A>T rs766777099
NM_000128.3(F11):c.*636A>G rs886059302
NM_000128.3(F11):c.*728T>C rs566734345
NM_000128.3(F11):c.*822A>G rs558079340
NM_000128.3(F11):c.*902G>A rs555668089
NM_000128.3(F11):c.*928G>A rs556465646
NM_000128.3(F11):c.*952G>A rs886059303
NM_000128.3(F11):c.*977_*979delATT rs886059304
NM_000128.3(F11):c.-183T>C rs886059297
NM_000128.3(F11):c.-2G>C
NM_000128.3(F11):c.-300C>T rs886059296
NM_000128.3(F11):c.-326C>G rs753031984
NM_000128.3(F11):c.-456G>A rs1004061199
NM_000128.3(F11):c.1028+9T>C rs376630194
NM_000128.3(F11):c.1084G>A (p.Gly362Arg) rs142096488
NM_000128.3(F11):c.1103G>C (p.Gly368Ala) rs748926718
NM_000128.3(F11):c.1106A>G (p.Tyr369Cys)
NM_000128.3(F11):c.1135+5G>A rs758515608
NM_000128.3(F11):c.1137G>C (p.Glu379Asp)
NM_000128.3(F11):c.1171G>A (p.Gly391Arg) rs1554083456
NM_000128.3(F11):c.1192G>A (p.Glu398Lys)
NM_000128.3(F11):c.1200G>A (p.Pro400=) rs150377265
NM_000128.3(F11):c.1217A>C (p.His406Pro) rs901732635
NM_000128.3(F11):c.1273T>A (p.Trp425Arg) rs1554083512
NM_000128.3(F11):c.1275G>C (p.Trp425Cys) rs533626812
NM_000128.3(F11):c.1283C>T (p.Thr428Ile) rs1554083516
NM_000128.3(F11):c.1305-5C>T
NM_000128.3(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.3(F11):c.1328G>A (p.Arg443His)
NM_000128.3(F11):c.1431C>T (p.Ser477=) rs149568223
NM_000128.3(F11):c.1481-1G>T rs1057516506
NM_000128.3(F11):c.1517A>G (p.Asp506Gly) rs281875258
NM_000128.3(F11):c.1546G>A (p.Val516Met) rs200622588
NM_000128.3(F11):c.1627G>A (p.Glu543Lys) rs142952627
NM_000128.3(F11):c.1646A>G (p.Tyr549Cys)
NM_000128.3(F11):c.1699G>A (p.Gly567Arg)
NM_000128.3(F11):c.1718G>A (p.Gly573Glu) rs754109115
NM_000128.3(F11):c.1741T>C (p.Cys581Arg) rs1554084164
NM_000128.3(F11):c.1751A>T (p.Asn584Ile)
NM_000128.3(F11):c.1772G>C (p.Gly591Ala)
NM_000128.3(F11):c.1789G>A (p.Glu597Lys) rs281875251
NM_000128.3(F11):c.188C>T (p.Ala63Val) rs281875244
NM_000128.3(F11):c.218+4A>G rs767240420
NM_000128.3(F11):c.219-11T>A rs886059298
NM_000128.3(F11):c.302A>G (p.Lys101Arg) rs281875272
NM_000128.3(F11):c.325+5G>T rs372102736
NM_000128.3(F11):c.345T>C (p.Tyr115=) rs766137229
NM_000128.3(F11):c.374A>G (p.Tyr125Cys) rs1554082187
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.422C>T (p.Thr141Met) rs200593979
NM_000128.3(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.3(F11):c.478G>T (p.Glu160Ter) rs376961859
NM_000128.3(F11):c.484C>T (p.Arg162Cys) rs748139184
NM_000128.3(F11):c.499C>T (p.Leu167=) rs374761594
NM_000128.3(F11):c.55+6delinsGAG rs1554081299
NM_000128.3(F11):c.599G>A (p.Cys200Tyr) rs757817254
NM_000128.3(F11):c.634G>A (p.Asp212Asn)
NM_000128.3(F11):c.680G>A (p.Gly227Asp) rs1489595409
NM_000128.3(F11):c.683G>A (p.Arg228Gln) rs281875246
NM_000128.3(F11):c.723C>G (p.Phe241Leu) rs281875265
NM_000128.3(F11):c.731A>G (p.Gln244Arg)
NM_000128.3(F11):c.756A>T (p.Arg252Ser) rs1441160252
NM_000128.3(F11):c.783G>C (p.Glu261Asp) rs201079681
NM_000128.3(F11):c.803G>A (p.Arg268His) rs201688862
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000128.3(F11):c.977G>A (p.Arg326His) rs1554082932
NM_000129.3(F13A1):c.*1030G>T rs548323382
NM_000129.3(F13A1):c.*1167T>G rs886061655
NM_000129.3(F13A1):c.*270C>T rs568780978
NM_000129.3(F13A1):c.*417G>T rs886061658
NM_000129.3(F13A1):c.*42G>A rs886061659
NM_000129.3(F13A1):c.*443G>A rs3024486
NM_000129.3(F13A1):c.*587G>A rs75981686
NM_000129.3(F13A1):c.*619C>T rs191569585
NM_000129.3(F13A1):c.*627G>A rs886061657
NM_000129.3(F13A1):c.*628G>A rs886061656
NM_000129.3(F13A1):c.*67C>T rs182425546
NM_000129.3(F13A1):c.*927G>A rs746364189
NM_000129.3(F13A1):c.*945T>C rs774737661
NM_000129.3(F13A1):c.-28G>A rs886061662
NM_000129.3(F13A1):c.102C>T (p.Gly34=) rs187027323
NM_000129.3(F13A1):c.1112+11T>C rs758486753
NM_000129.3(F13A1):c.160T>A (p.Phe54Ile) rs138690353
NM_000129.3(F13A1):c.1731G>C (p.Thr577=) rs137945179
NM_000129.3(F13A1):c.1860G>C (p.Leu620=) rs138943514
NM_000129.3(F13A1):c.2029A>G (p.Met677Val) rs371964182
NM_000129.3(F13A1):c.2067C>T (p.Thr689=) rs750971578
NM_000129.3(F13A1):c.327C>T (p.Tyr109=) rs886061661
NM_000129.3(F13A1):c.782G>A (p.Arg261His) rs121913071
NM_000129.3(F13A1):c.799-13C>T rs188094485
NM_000129.3(F13A1):c.889G>A (p.Val297Ile) rs199564311
NM_000129.3(F13A1):c.990A>T (p.Gly330=) rs886061660
NM_000130.4(F5):c.*104A>C rs886045540
NM_000130.4(F5):c.*1170G>A rs191866237
NM_000130.4(F5):c.*1290G>A rs9332677
NM_000130.4(F5):c.*1432C>T rs886045536
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.*1780G>T rs559071301
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.*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.*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.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.1300G>A (p.Val434Met) rs574610215
NM_000130.4(F5):c.1321C>T (p.Arg441Cys) rs747006175
NM_000130.4(F5):c.1391C>T (p.Thr464Ile) rs141768227
NM_000130.4(F5):c.1545C>T (p.Ile515=) rs886045551
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.1785G>A (p.Glu595=) rs112333778
NM_000130.4(F5):c.1975G>A (p.Gly659Arg)
NM_000130.4(F5):c.2042A>G (p.Asp681Gly) rs886045550
NM_000130.4(F5):c.2222A>G (p.Asn741Ser) rs144979314
NM_000130.4(F5):c.2241_2243AGA[2] (p.Glu750del) rs575766548
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.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.3442T>C (p.Ser1148Pro) rs369276714
NM_000130.4(F5):c.3455A>C (p.Glu1152Ala) rs543751483
NM_000130.4(F5):c.358A>G (p.Ser120Gly)
NM_000130.4(F5):c.3801T>C (p.Leu1267=) rs559683767
NM_000130.4(F5):c.3851C>T (p.Thr1284Ile) rs139573207
NM_000130.4(F5):c.3949G>A (p.Gly1317Ser) rs149048805
NM_000130.4(F5):c.4035A>G (p.Gln1345=) rs886045547
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.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.5054C>G (p.Thr1685Ser) rs6011
NM_000130.4(F5):c.5124C>T (p.Tyr1708=) rs199568344
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.5308G>A (p.Val1770Ile) rs374815777
NM_000130.4(F5):c.5332G>C (p.Glu1778Gln) rs886045544
NM_000130.4(F5):c.538G>A (p.Glu180Lys) rs143152035
NM_000130.4(F5):c.5419+11C>G rs6008
NM_000130.4(F5):c.5490G>A (p.Leu1830=) rs149092241
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.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.6309G>A (p.Leu2103=) rs35369423
NM_000130.4(F5):c.6360G>A (p.Lys2120=) rs757104503
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.738A>G (p.Thr246=) rs375739973
NM_000130.4(F5):c.773T>C (p.Leu258Pro)
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.936C>T (p.Thr312=) rs758832130
NM_000130.4(F5):c.996A>C (p.Lys332Asn)
NM_000131.4(F7):c.*1054C>A rs546634569
NM_000131.4(F7):c.*1057C>T rs141219406
NM_000131.4(F7):c.*1077del rs886050000
NM_000131.4(F7):c.*1475G>A rs3093258
NM_000131.4(F7):c.*1500_*1503del rs539395699
NM_000131.4(F7):c.*1614A>C rs577978392
NM_000131.4(F7):c.*275G>A rs886049988
NM_000131.4(F7):c.*284C>T rs750831181
NM_000131.4(F7):c.*285G>A rs577927838
NM_000131.4(F7):c.*294A>C rs886049989
NM_000131.4(F7):c.*340T>C rs545497651
NM_000131.4(F7):c.*410C>T rs139474305
NM_000131.4(F7):c.*425C>T rs886049990
NM_000131.4(F7):c.*499G>A rs575689457
NM_000131.4(F7):c.*543A>G rs886049991
NM_000131.4(F7):c.*561_*562AT[1] rs886049992
NM_000131.4(F7):c.*582C>T rs886049993
NM_000131.4(F7):c.*605G>A rs144204350
NM_000131.4(F7):c.*620C>T rs151109093
NM_000131.4(F7):c.*628_*630del rs747160994
NM_000131.4(F7):c.*672_*673CA[3] rs886049995
NM_000131.4(F7):c.*703_*704AC[3] rs3093252
NM_000131.4(F7):c.*71T>A rs143748941
NM_000131.4(F7):c.*756_*770delinsCCA rs886049997
NM_000131.4(F7):c.*846_*850CTTCA[1] rs886049998
NM_000131.4(F7):c.*909C>T rs886049999
NM_000131.4(F7):c.*991G>A rs3093254
NM_000131.4(F7):c.-27C>T rs886049985
NM_000131.4(F7):c.1003T>C (p.Phe335Leu) rs762858015
NM_000131.4(F7):c.1054G>A (p.Ala352Thr) rs3093267
NM_000131.4(F7):c.130+11A>T rs886049986
NM_000131.4(F7):c.169C>A (p.Arg57=) rs886049987
NM_000131.4(F7):c.215C>G (p.Ser72Cys)
NM_000131.4(F7):c.283G>A (p.Glu95Lys)
NM_000131.4(F7):c.682-11C>A rs750680622
NM_000131.4(F7):c.805+7_805+43del
NM_000131.4(F7):c.879G>A (p.Thr293=) rs148965964
NM_000131.4(F7):c.996G>A (p.Thr332=) rs202240468
NM_000132.3(F8):c.3980C>T (p.Thr1327Met)
NM_000132.3(F8):c.5164G>A (p.Val1722Met)
NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) rs782198570
NM_000132.3(F8):c.6724G>A (p.Val2242Met) rs782654096
NM_000132.3(F8):c.926C>T (p.Pro309Leu)
NM_000133.3(F9):c.1148T>C (p.Leu383Pro) rs1387119011
NM_000133.3(F9):c.520+13A>G
NM_000133.3(F9):c.769G>A (p.Val257Ile) rs200608775
NM_000133.3(F9):c.960A>C (p.Glu320Asp)
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411
NM_000301.3(PLG):c.1217C>A (p.Pro406Gln)
NM_000301.3(PLG):c.1469G>A (p.Arg490Gln) rs140537724
NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) rs121918027
NM_000301.3(PLG):c.2278A>G (p.Ser760Gly)
NM_000301.3(PLG):c.950+4A>G
NM_000361.2(THBD):c.1456G>T (p.Asp486Tyr) rs41348347
NM_000361.2(THBD):c.683C>T (p.Pro228Leu) rs375011249
NM_000504.4(F10):c.1043G>A (p.Trp348Ter) rs1566922655
NM_000504.4(F10):c.1215C>T (p.Ala405=) rs770904651
NM_000504.4(F10):c.1226C>T (p.Thr409Ile) rs775241064
NM_000504.4(F10):c.1237G>A (p.Asp413Asn)
NM_000504.4(F10):c.1321G>A (p.Glu441Lys)
NM_000504.4(F10):c.241T>G (p.Trp81Gly)
NM_000504.4(F10):c.257-12C>T rs372691873
NM_000504.4(F10):c.348C>T (p.Phe116=) rs747030511
NM_000504.4(F10):c.396C>T (p.Asp132=) rs111737184
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266
NM_000504.4(F10):c.535C>T (p.Arg179Cys)
NM_000504.4(F10):c.57G>A (p.Leu19=) rs370154986
NM_000504.4(F10):c.584C>G (p.Pro195Arg) rs886050002
NM_000504.4(F10):c.60C>T (p.Leu20=) rs3211718
NM_000504.4(F10):c.633C>G (p.Thr211=) rs140852978
NM_000504.4(F10):c.702G>C (p.Arg234Ser)
NM_000504.4(F10):c.747+11G>A rs376728587
NM_000504.4(F10):c.7C>T (p.Arg3Cys) rs149972574
NM_000504.4(F10):c.872G>A (p.Arg291Gln) rs149212700
NM_000504.4(F10):c.878C>T (p.Thr293Met) rs752412971
NM_000505.3(F12):c.-25G>A rs886060472
NM_000505.3(F12):c.1212C>G (p.Pro404=) rs756802257
NM_000505.3(F12):c.1251-12C>A rs747726864
NM_000505.3(F12):c.158A>G (p.Tyr53Cys) rs118204455
NM_000505.3(F12):c.630C>T (p.Asp210=) rs886060471
NM_000505.3(F12):c.928A>T (p.Arg310Trp) rs749549919
NM_000509.5(FGG):c.-130G>T rs749800940
NM_000509.5(FGG):c.-53A>G rs886059156
NM_000509.5(FGG):c.1237A>G (p.Ile413Val) rs886059154
NM_000509.5(FGG):c.1285G>T (p.Gly429Trp) rs145938787
NM_000509.5(FGG):c.19C>T (p.Pro7Ser) rs374845868
NM_000509.5(FGG):c.502A>G (p.Thr168Ala) rs141559764
NM_000509.5(FGG):c.667-10G>C rs886059155
NM_000552.4(VWF):c.-107C>G rs886049747
NM_000552.4(VWF):c.-131G>C rs886049748
NM_000552.4(VWF):c.-72C>T rs886049746
NM_000552.4(VWF):c.1001G>A (p.Gly334Glu)
NM_000552.4(VWF):c.1051G>A (p.Val351Met) rs535978867
NM_000552.4(VWF):c.1077C>T (p.Pro359=) rs71582884
NM_000552.4(VWF):c.1142A>G (p.Asn381Ser) rs886049745
NM_000552.4(VWF):c.114C>T (p.Phe38=) rs2229443
NM_000552.4(VWF):c.1463C>G (p.Ala488Gly)
NM_000552.4(VWF):c.1514G>A (p.Arg505His)
NM_000552.4(VWF):c.1596C>T (p.Gly532=) rs111240043
NM_000552.4(VWF):c.1625C>G (p.Ala542Gly) rs141649383
NM_000552.4(VWF):c.1730-18_1730-12del rs756282321
NM_000552.4(VWF):c.1730-5C>T rs569984866
NM_000552.4(VWF):c.1752C>T (p.Cys584=) rs748584672
NM_000552.4(VWF):c.182T>C (p.Leu61Pro)
NM_000552.4(VWF):c.1841C>T (p.Ser614Phe)
NM_000552.4(VWF):c.1862G>C (p.Cys621Ser) rs886049744
NM_000552.4(VWF):c.1922C>T (p.Ala641Val) rs61754019
NM_000552.4(VWF):c.2025G>A (p.Pro675=) rs779045480
NM_000552.4(VWF):c.2103C>T (p.Cys701=) rs78995469
NM_000552.4(VWF):c.2281+13C>T rs183077797
NM_000552.4(VWF):c.2289G>A (p.Arg763=) rs886049743
NM_000552.4(VWF):c.2299T>C (p.Cys767Arg)
NM_000552.4(VWF):c.250C>T (p.Leu84Phe) rs372664002
NM_000552.4(VWF):c.2547-5C>T rs373203368
NM_000552.4(VWF):c.2570A>G (p.Asn857Ser) rs765163545
NM_000552.4(VWF):c.2686-7T>G
NM_000552.4(VWF):c.2981G>A (p.Gly994Asp)
NM_000552.4(VWF):c.3108+5G>A rs61748495
NM_000552.4(VWF):c.3162G>C (p.Thr1054=) rs754421736
NM_000552.4(VWF):c.3251G>A (p.Cys1084Tyr)
NM_000552.4(VWF):c.3379+12C>T rs374393996
NM_000552.4(VWF):c.3538+6G>T rs886049742
NM_000552.4(VWF):c.3539-15A>G rs748934603
NM_000552.4(VWF):c.3719C>T (p.Pro1240Leu) rs150576611
NM_000552.4(VWF):c.3720G>A (p.Pro1240=) rs141792415
NM_000552.4(VWF):c.3835G>A (p.Val1279Ile) rs61749376
NM_000552.4(VWF):c.3842T>C (p.Leu1281Pro)
NM_000552.4(VWF):c.391G>A (p.Gly131Ser) rs76505074
NM_000552.4(VWF):c.3952G>A (p.Val1318Met) rs372028373
NM_000552.4(VWF):c.4007G>A (p.Arg1336Gln) rs886049741
NM_000552.4(VWF):c.4027A>G (p.Ile1343Val) rs150923481
NM_000552.4(VWF):c.4103T>C (p.Ile1368Thr) rs199675425
NM_000552.4(VWF):c.4146G>T (p.Leu1382=)
NM_000552.4(VWF):c.435C>G (p.Asn145Lys)
NM_000552.4(VWF):c.4360G>A (p.Val1454Ile)
NM_000552.4(VWF):c.4457C>T (p.Ser1486Leu)
NM_000552.4(VWF):c.4622A>G (p.Gln1541Arg)
NM_000552.4(VWF):c.4727C>A (p.Thr1576Asn)
NM_000552.4(VWF):c.4834G>C (p.Ala1612Pro)
NM_000552.4(VWF):c.5049A>C (p.Ala1683=) rs79275181
NM_000552.4(VWF):c.5170+5G>A
NM_000552.4(VWF):c.5191T>A (p.Ser1731Thr) rs61750603
NM_000552.4(VWF):c.5277C>T (p.Asp1759=) rs41276736
NM_000552.4(VWF):c.5369C>T (p.Pro1790Leu) rs551649729
NM_000552.4(VWF):c.5493C>T (p.Tyr1831=) rs769268109
NM_000552.4(VWF):c.55+8C>A rs114713980
NM_000552.4(VWF):c.5533G>A (p.Asp1845Asn) rs201548925
NM_000552.4(VWF):c.5620+10A>G rs886049740
NM_000552.4(VWF):c.5664+15G>A rs7961539
NM_000552.4(VWF):c.5668G>A (p.Gly1890Arg)
NM_000552.4(VWF):c.5785A>T (p.Asn1929Tyr) rs149799233
NM_000552.4(VWF):c.5849G>A (p.Cys1950Tyr)
NM_000552.4(VWF):c.5851A>G (p.Thr1951Ala) rs144072210
NM_000552.4(VWF):c.5876T>G (p.Val1959Gly) rs886049739
NM_000552.4(VWF):c.6043G>A (p.Glu2015Lys) rs775806908
NM_000552.4(VWF):c.6196A>G (p.Asn2066Asp) rs886049738
NM_000552.4(VWF):c.6314C>T (p.Thr2105Ile)
NM_000552.4(VWF):c.6421G>A (p.Val2141Ile)
NM_000552.4(VWF):c.6433C>T (p.Pro2145Ser) rs61750618
NM_000552.4(VWF):c.6538T>C (p.Tyr2180His)
NM_000552.4(VWF):c.6572T>C (p.Val2191Ala) rs753731128
NM_000552.4(VWF):c.6611C>T (p.Pro2204Leu) rs777556669
NM_000552.4(VWF):c.6756G>A (p.Glu2252=) rs71581020
NM_000552.4(VWF):c.6762C>G (p.Cys2254Trp)
NM_000552.4(VWF):c.6798+13G>A rs201509264
NM_000552.4(VWF):c.6798+5G>A
NM_000552.4(VWF):c.6798+6A>G
NM_000552.4(VWF):c.6859C>T (p.Arg2287Trp) rs61750625
NM_000552.4(VWF):c.6902-5T>A rs112046757
NM_000552.4(VWF):c.6908C>T (p.Thr2303Met) rs149432685
NM_000552.4(VWF):c.6931C>T (p.Arg2311Cys) rs150725355
NM_000552.4(VWF):c.6976+11C>T rs751395078
NM_000552.4(VWF):c.7007C>T (p.Pro2336Leu) rs144769404
NM_000552.4(VWF):c.7082-13G>C rs71581025
NM_000552.4(VWF):c.7135C>T (p.Arg2379Cys) rs61751283
NM_000552.4(VWF):c.7240G>A (p.Ala2414Thr) rs754853953
NM_000552.4(VWF):c.7362C>T (p.Thr2454=) rs146504585
NM_000552.4(VWF):c.7429T>C (p.Cys2477Arg)
NM_000552.4(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.4(VWF):c.7698G>A (p.Lys2566=) rs16932285
NM_000552.4(VWF):c.7729+8A>G rs775123891
NM_000552.4(VWF):c.7730-4C>G rs71581030
NM_000552.4(VWF):c.7790T>A (p.Ile2597Asn) rs886049737
NM_000552.4(VWF):c.7800C>T (p.Cys2600=) rs200209213
NM_000552.4(VWF):c.7887+12T>C rs55687637
NM_000552.4(VWF):c.792del (p.Cys265fs) rs1565853894
NM_000552.4(VWF):c.7940C>T (p.Thr2647Met) rs61751302
NM_000552.4(VWF):c.7947C>T (p.Cys2649=) rs748907832
NM_000552.4(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.4(VWF):c.8052C>A (p.Tyr2684Ter) rs1565806829
NM_000552.4(VWF):c.8096A>G (p.His2699Arg) rs886049736
NM_000552.4(VWF):c.814G>C (p.Ala272Pro)
NM_000552.4(VWF):c.8155+8C>T rs886049735
NM_000552.4(VWF):c.8160G>A (p.Glu2720=) rs368802960
NM_000552.4(VWF):c.8215T>C (p.Cys2739Arg)
NM_000552.4(VWF):c.8275A>G (p.Met2759Val)
NM_000552.4(VWF):c.8276T>C (p.Met2759Thr)
NM_000552.4(VWF):c.8307C>A (p.Asp2769Glu)
NM_000552.4(VWF):c.8366C>G (p.Thr2789Ser) rs371036946
NM_000552.4(VWF):c.858C>T (p.Thr286=) rs776206258
NM_000602.4(SERPINE1):c.*1006T>C rs201434513
NM_000602.4(SERPINE1):c.*1147G>C rs886061838
NM_000602.4(SERPINE1):c.*1155T>C rs886061839
NM_000602.4(SERPINE1):c.*1192G>C rs886061840
NM_000602.4(SERPINE1):c.*1266G>C rs778538888
NM_000602.4(SERPINE1):c.*1295C>T rs372017980
NM_000602.4(SERPINE1):c.*1388G>A rs71557295
NM_000602.4(SERPINE1):c.*1443C>A rs886061841
NM_000602.4(SERPINE1):c.*1590A>G rs886061842
NM_000602.4(SERPINE1):c.*1668G>C rs886061843
NM_000602.4(SERPINE1):c.*1784del rs886061844
NM_000602.4(SERPINE1):c.*207C>T rs747135553
NM_000602.4(SERPINE1):c.*508C>A rs886061836
NM_000602.4(SERPINE1):c.*859C>T rs886061837
NM_000602.4(SERPINE1):c.*891C>T rs550508703
NM_000602.4(SERPINE1):c.*950C>T rs536144892
NM_000602.4(SERPINE1):c.-101G>A rs886061835
NM_000602.4(SERPINE1):c.-54C>T rs760811030
NM_000602.4(SERPINE1):c.-93C>T rs556803416
NM_000602.4(SERPINE1):c.1020C>T (p.Val340=) rs201351580
NM_000602.4(SERPINE1):c.191C>T (p.Ser64Leu) rs758271488
NM_000602.4(SERPINE1):c.456G>C (p.Val152=) rs200318916
NM_000602.4(SERPINE1):c.537C>T (p.Ala179=) rs376407844
NM_000602.4(SERPINE1):c.649G>A (p.Gly217Ser) rs766181190
NM_000602.4(SERPINE1):c.845T>G (p.Ile282Ser) rs750289183
NM_000821.7(GGCX):c.1140dup (p.His381fs) rs1558807827
NM_001102416.3(KNG1):c.1866_1869del (p.Ser623fs) rs559129841
NM_001171506.2(MCFD2):c.*2780_*2781del rs886056109
NM_001171506.2(MCFD2):c.-184_-183del rs886056120
NM_001171506.2(MCFD2):c.-184del rs886056122
NM_001171506.2(MCFD2):c.-185_-183del rs886056121
NM_001171506.2(MCFD2):c.-189_-186del rs886056123
NM_001171506.2(MCFD2):c.-189del rs886056124
NM_001994.2(F13B):c.*162C>A rs180977741
NM_001994.2(F13B):c.*89G>C rs17549873
NM_001994.2(F13B):c.-30T>A rs767006990
NM_001994.2(F13B):c.1025T>C (p.Ile342Thr) rs17514281
NM_001994.2(F13B):c.1060T>C (p.Tyr354His) rs376295989
NM_001994.2(F13B):c.1089A>C (p.Ala363=) rs117019969
NM_001994.2(F13B):c.1098C>T (p.Ser366=) rs771474972
NM_001994.2(F13B):c.1145A>G (p.Lys382Arg) rs755966271
NM_001994.2(F13B):c.1163A>T (p.Glu388Val) rs5991
NM_001994.2(F13B):c.1285T>C (p.Tyr429His) rs201427054
NM_001994.2(F13B):c.1320A>G (p.Glu440=) rs147383994
NM_001994.2(F13B):c.1556-13C>A rs149088047
NM_001994.2(F13B):c.1670A>G (p.His557Arg) rs759631235
NM_001994.2(F13B):c.1707T>G (p.Asp569Glu) rs6000
NM_001994.2(F13B):c.1739-8_1739-6del rs556380704
NM_001994.2(F13B):c.1815C>T (p.His605=) rs375961962
NM_001994.2(F13B):c.1902G>A (p.Met634Ile) rs142886126
NM_001994.2(F13B):c.1961C>T (p.Ser654Phe) rs561359007
NM_001994.2(F13B):c.354C>T (p.Cys118=) rs142562955
NM_001994.2(F13B):c.570G>A (p.Lys190=) rs17514253
NM_001994.2(F13B):c.645_647del (p.Leu216del) rs750927097
NM_001994.2(F13B):c.796G>C (p.Val266Leu) rs533222920
NM_001994.2(F13B):c.877C>T (p.Arg293Cys) rs780257236
NM_001994.2(F13B):c.986-4T>C rs76405247
NM_005141.4(FGB):c.*1372T>A rs371670019
NM_005141.4(FGB):c.*1409C>A rs886059144
NM_005141.4(FGB):c.*1444C>A rs886059145
NM_005141.4(FGB):c.*1542T>C rs886059146
NM_005141.4(FGB):c.*1544T>C rs886059147
NM_005141.4(FGB):c.*15A>G rs375561591
NM_005141.4(FGB):c.*1671C>T rs765773409
NM_005141.4(FGB):c.*1738G>A rs760784701
NM_005141.4(FGB):c.*1771C>T rs776780011
NM_005141.4(FGB):c.*1867T>C rs886059148
NM_005141.4(FGB):c.*1998A>G rs886059149
NM_005141.4(FGB):c.*303C>T rs886059142
NM_005141.4(FGB):c.*361A>T rs886059143
NM_005141.4(FGB):c.*36A>G rs758231685
NM_005141.4(FGB):c.*496G>A rs557290052
NM_005141.4(FGB):c.*592G>A rs376470048
NM_005141.4(FGB):c.*624C>T rs754198978
NM_005141.4(FGB):c.*835del rs768727295
NM_005141.4(FGB):c.-6_-5del rs757727864
NM_005141.4(FGB):c.114+11del rs779228767
NM_005141.4(FGB):c.1244+7G>A rs142937995
NM_005141.4(FGB):c.200G>C (p.Ser67Thr) rs371842822
NM_005141.4(FGB):c.251A>C (p.Lys84Thr) rs886059141
NM_005141.4(FGB):c.332A>G (p.Gln111Arg) rs758080375
NM_005141.4(FGB):c.4A>G (p.Lys2Glu) rs6053
NM_005141.4(FGB):c.564T>C (p.Asn188=) rs759250713
NM_005570.4(LMAN1):c.*1168C>T rs770166340
NM_005570.4(LMAN1):c.*1298A>G rs762134361
NM_005570.4(LMAN1):c.*1305A>G rs886054036
NM_005570.4(LMAN1):c.*1332C>G rs779423308
NM_005570.4(LMAN1):c.*1390T>G rs566011013
NM_005570.4(LMAN1):c.*1452_*1455del rs886054035
NM_005570.4(LMAN1):c.*1565C>T rs140930139
NM_005570.4(LMAN1):c.*1616A>G rs543483287
NM_005570.4(LMAN1):c.*164A>G rs41332251
NM_005570.4(LMAN1):c.*1970T>G rs886054034
NM_005570.4(LMAN1):c.*1988C>T rs886054033
NM_005570.4(LMAN1):c.*2044A>G rs191555835
NM_005570.4(LMAN1):c.*2259A>T rs886054032
NM_005570.4(LMAN1):c.*2602G>T rs886054031
NM_005570.4(LMAN1):c.*2650G>A rs886054030
NM_005570.4(LMAN1):c.*2893G>A rs143943495
NM_005570.4(LMAN1):c.*2923C>T rs561819154
NM_005570.4(LMAN1):c.*424T>G rs886054037
NM_005570.4(LMAN1):c.*48G>A rs148071519
NM_005570.4(LMAN1):c.*57G>A rs41355245
NM_005570.4(LMAN1):c.*939C>T rs149781610
NM_005570.4(LMAN1):c.-5C>T rs765835101
NM_005570.4(LMAN1):c.1050G>T (p.Arg350=) rs185875271
NM_005570.4(LMAN1):c.1221-4T>C rs200829791
NM_005570.4(LMAN1):c.1319A>G (p.Lys440Arg) rs147071939
NM_005570.4(LMAN1):c.1392G>A (p.Pro464=) rs149932943
NM_005570.4(LMAN1):c.214+7C>T rs2277728
NM_005570.4(LMAN1):c.27C>G (p.Leu9=) rs747955217
NM_005570.4(LMAN1):c.478-15T>C rs183354795
NM_005570.4(LMAN1):c.539+3A>G rs201868497
NM_005570.4(LMAN1):c.540T>G (p.Asn180Lys) rs886054038
NM_005570.4(LMAN1):c.663A>G (p.Thr221=) rs368261071
NM_005570.4(LMAN1):c.821C>T (p.Pro274Leu) rs41476148
NM_005570.4(LMAN1):c.846G>A (p.Ser282=) rs377676111
NM_021870.3(FGG):c.274C>T (p.Leu92Phe) rs142286849
NM_021870.3(FGG):c.309T>C (p.Asn103=) rs138916334
NM_021871.4(FGA):c.*50T>G rs369606098
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn) rs200378626
NM_021871.4(FGA):c.1823G>C (p.Gly608Ala) rs370873387
NM_021871.4(FGA):c.244A>C (p.Thr82Pro) rs199554805
NM_021871.4(FGA):c.346G>A (p.Asp116Asn) rs886059153
NM_021871.4(FGA):c.450G>A (p.Gln150=) rs368446857
NM_021871.4(FGA):c.614A>G (p.Glu205Gly) rs886059152
NM_021871.4(FGA):c.616C>G (p.Gln206Glu) rs560732073
NM_021871.4(FGA):c.666A>T (p.Pro222=) rs886059151
NM_021871.4(FGA):c.765G>A (p.Pro255=) rs779582722
NM_021871.4(FGA):c.822C>T (p.Ser274=) rs886059150
NM_021871.4(FGA):c.919A>G (p.Asn307Asp) rs750564329
NM_139279.5(MCFD2):c.*1043G>A rs114662283
NM_139279.5(MCFD2):c.*1111G>C rs181922575
NM_139279.5(MCFD2):c.*1158C>A rs886056113
NM_139279.5(MCFD2):c.*1289T>C rs527427772
NM_139279.5(MCFD2):c.*1314C>T rs150644996
NM_139279.5(MCFD2):c.*1354G>T rs886056112
NM_139279.5(MCFD2):c.*1415C>T rs147096932
NM_139279.5(MCFD2):c.*1724C>T rs115137793
NM_139279.5(MCFD2):c.*173G>T rs886056116
NM_139279.5(MCFD2):c.*1788C>T rs115043642
NM_139279.5(MCFD2):c.*1875T>C rs552695942
NM_139279.5(MCFD2):c.*1995G>A rs183896754
NM_139279.5(MCFD2):c.*2017C>T rs886056111
NM_139279.5(MCFD2):c.*2121G>A rs187335799
NM_139279.5(MCFD2):c.*2141G>C rs546151221
NM_139279.5(MCFD2):c.*2169G>A rs79487300
NM_139279.5(MCFD2):c.*2336A>C rs144118640
NM_139279.5(MCFD2):c.*2565A>G rs886056110
NM_139279.5(MCFD2):c.*2789G>C rs886056108
NM_139279.5(MCFD2):c.*2848C>T rs142254354
NM_139279.5(MCFD2):c.*3014G>A rs886056107
NM_139279.5(MCFD2):c.*3072_*3073insGG rs559484016
NM_139279.5(MCFD2):c.*3099G>A rs886056106
NM_139279.5(MCFD2):c.*3100C>G rs13424086
NM_139279.5(MCFD2):c.*311G>A rs886056115
NM_139279.5(MCFD2):c.*3293A>C rs763634945
NM_139279.5(MCFD2):c.*3354A>G rs886056105
NM_139279.5(MCFD2):c.*428G>A rs781195000
NM_139279.5(MCFD2):c.*517C>G rs761766519
NM_139279.5(MCFD2):c.*557G>A rs185756640
NM_139279.5(MCFD2):c.*569G>A rs149363149
NM_139279.5(MCFD2):c.*62T>G rs886056117
NM_139279.5(MCFD2):c.*64T>C rs754447509
NM_139279.5(MCFD2):c.*73A>G rs71423925
NM_139279.5(MCFD2):c.*84T>C rs182576601
NM_139279.5(MCFD2):c.*892G>A rs886056114
NM_139279.5(MCFD2):c.*912C>T rs189018618
NM_139279.5(MCFD2):c.-34C>A rs886056119
NM_139279.5(MCFD2):c.-7+11T>A rs201752014
NM_139279.5(MCFD2):c.-95C>G rs886056125
NM_139279.5(MCFD2):c.106C>G (p.Pro36Ala) rs756021929
NM_139279.5(MCFD2):c.236T>C (p.Met79Thr) rs886056118
NM_139279.5(MCFD2):c.310-11G>C rs144139062
NM_139279.5(MCFD2):c.416C>T (p.Ala139Val) rs80294301
Single allele

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.