ClinVar Miner

List of variants reported as likely benign for coagulation protein disease

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 221
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HGVS dbSNP
NM_000128.3(F11):c.*265A>G rs4253429
NM_000128.3(F11):c.*322G>A rs4253865
NM_000128.3(F11):c.*885G>A rs4253432
NM_000128.3(F11):c.-54G>A rs4253814
NM_000128.3(F11):c.1016G>T (p.Cys339Phe) rs5967
NM_000128.3(F11):c.1304+25_1304+28delAGTT rs778294619
NM_000128.3(F11):c.1707C>T (p.Asp569=) rs5975
NM_000128.3(F11):c.1812G>T (p.Arg604=) rs5971
NM_000128.3(F11):c.1839G>A (p.Glu613=) rs5976
NM_000128.3(F11):c.429C>T (p.Asp143=) rs5973
NM_000129.3(F13A1):c.*112G>T rs3024463
NM_000129.3(F13A1):c.*126T>C rs1050782
NM_000129.3(F13A1):c.*160G>A rs1050783
NM_000129.3(F13A1):c.*221G>A rs3024464
NM_000129.3(F13A1):c.*743G>A rs12862
NM_000129.3(F13A1):c.*89A>G rs3024462
NM_000129.3(F13A1):c.*995G>T rs3024466
NM_000129.3(F13A1):c.-18-5dup rs750373197
NM_000129.3(F13A1):c.103G>T (p.Val35Leu) rs5985
NM_000129.3(F13A1):c.1694C>T (p.Pro565Leu) rs5982
NM_000129.3(F13A1):c.1704A>G (p.Glu568=) rs5986
NM_000129.3(F13A1):c.1951G>A (p.Val651Ile) rs5987
NM_000129.3(F13A1):c.1954G>C (p.Glu652Gln) rs5988
NM_000129.3(F13A1):c.996A>C (p.Pro332=) rs5981
NM_000130.4(F5):c.*1115C>T rs2040444
NM_000130.4(F5):c.*1118G>A rs9332675
NM_000130.4(F5):c.*1246C>T rs9332676
NM_000130.4(F5):c.*1436T>A rs9332678
NM_000130.4(F5):c.*1601C>T rs2187952
NM_000130.4(F5):c.*1820A>C rs72708013
NM_000130.4(F5):c.*2328G>C rs6427196
NM_000130.4(F5):c.*873C>T rs9332673
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.1380C>T (p.Asn460=) rs6015
NM_000130.4(F5):c.1538G>A (p.Arg513Lys) rs6020
NM_000130.4(F5):c.158+13T>C rs116416322
NM_000130.4(F5):c.1716G>A (p.Glu572=) rs6036
NM_000130.4(F5):c.1926C>A (p.Thr642=) rs6037
NM_000130.4(F5):c.2208C>T (p.Ile736=) rs6016
NM_000130.4(F5):c.2235T>C (p.Asn745=) rs6017
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.2425C>T (p.Pro809Ser) rs6031
NM_000130.4(F5):c.2450A>C (p.Asn817Thr) rs6018
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.2925C>T (p.Pro975=) rs41272457
NM_000130.4(F5):c.319G>C (p.Asp107His) rs6019
NM_000130.4(F5):c.3438C>G (p.His1146Gln) rs6005
NM_000130.4(F5):c.3504A>C (p.Thr1168=) rs13306332
NM_000130.4(F5):c.3804T>C (p.Ser1268=) rs1800594
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.3980A>G (p.His1327Arg) rs1800595
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.43G>A (p.Gly15Ser) rs9332485
NM_000130.4(F5):c.5022A>G (p.Gly1674=) rs6010
NM_000130.4(F5):c.5290A>G (p.Met1764Val) rs6030
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.552G>T (p.Ser184=) rs6022
NM_000130.4(F5):c.564G>C (p.Gly188=) rs1557573
NM_000130.4(F5):c.6443T>C (p.Met2148Thr) rs9332701
NM_000130.4(F5):c.6665A>G (p.Asp2222Gly) rs6027
NM_000130.4(F5):c.730+7C>T rs6023
NM_000130.4(F5):c.816C>T (p.Asn272=) rs9332578
NM_000131.4(F7):c.*1146A>G rs3093255
NM_000131.4(F7):c.*1240C>G rs3093256
NM_000131.4(F7):c.*1275A>G rs3093257
NM_000131.4(F7):c.*1649G>A rs3093259
NM_000131.4(F7):c.*533A>C rs116688254
NM_000131.4(F7):c.*639G>A rs3093250
NM_000131.4(F7):c.*673A>G rs3093251
NM_000131.4(F7):c.*82T>C rs368359845
NM_000131.4(F7):c.*888G>A rs79733913
NM_000131.4(F7):c.108G>A (p.Pro36=) rs3093238
NM_000131.4(F7):c.285G>A (p.Glu95=) rs36208758
NM_000131.4(F7):c.64+8C>T rs10482844
NM_000504.4(F10):c.-40C>T rs3212994
NM_000504.4(F10):c.399C>T (p.Asn133=) rs5962
NM_000504.4(F10):c.574G>A (p.Gly192Arg) rs3211783
NM_000504.4(F10):c.90G>C (p.Gln30His) rs5961
NM_000505.3(F12):c.-3G>A rs201346142
NM_000505.3(F12):c.-57G>C rs41309132
NM_000505.3(F12):c.-62C>T rs187018744
NM_000505.3(F12):c.-8C>T rs369991760
NM_000505.3(F12):c.1018+12G>C rs758462343
NM_000505.3(F12):c.1018+13G>C rs552424629
NM_000505.3(F12):c.1025C>T (p.Pro342Leu) rs2230939
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000505.3(F12):c.1107G>C (p.Ser369=) rs141473119
NM_000505.3(F12):c.1251-7C>T rs375340260
NM_000505.3(F12):c.1272G>C (p.Thr424=) rs61737766
NM_000505.3(F12):c.1299C>T (p.Asn433=) rs17876033
NM_000505.3(F12):c.1342C>T (p.Arg448Cys) rs115119084
NM_000505.3(F12):c.348C>A (p.Gly116=) rs140243617
NM_000505.3(F12):c.398-12C>T rs56285942
NM_000505.3(F12):c.418C>G (p.Leu140Val) rs35515200
NM_000505.3(F12):c.930G>C (p.Arg310Ser) rs77098327
NM_000552.4(VWF):c.1173A>T (p.Thr391=) rs1800375
NM_000552.4(VWF):c.1182A>C (p.Ser394=) rs1800376
NM_000552.4(VWF):c.1411G>A (p.Val471Ile) rs1800377
NM_000552.4(VWF):c.1433-10T>C rs66722092
NM_000552.4(VWF):c.1451A>G (p.His484Arg) rs1800378
NM_000552.4(VWF):c.1548T>C (p.Tyr516=) rs1800379
NM_000552.4(VWF):c.1626G>A (p.Ala542=) rs35365059
NM_000552.4(VWF):c.1728G>T (p.Met576Ile) rs150146744
NM_000552.4(VWF):c.1794C>T (p.Ala598=) rs35302737
NM_000552.4(VWF):c.1945+15T>A rs71582861
NM_000552.4(VWF):c.1946-17_1946-15dup rs10622288
NM_000552.4(VWF):c.2220G>A (p.Met740Ile) rs2228317
NM_000552.4(VWF):c.2365A>G (p.Thr789Ala) rs1063856
NM_000552.4(VWF):c.2385T>C (p.Tyr795=) rs1063857
NM_000552.4(VWF):c.2451T>A (p.His817Gln) rs57950734
NM_000552.4(VWF):c.2880G>A (p.Arg960=) rs1800380
NM_000552.4(VWF):c.3240T>C (p.Tyr1080=) rs4021576
NM_000552.4(VWF):c.3258C>T (p.Tyr1086=) rs112634786
NM_000552.4(VWF):c.3379+13G>A rs2885752
NM_000552.4(VWF):c.3379+7A>C rs113446850
NM_000552.4(VWF):c.3414C>T (p.Asn1138=) rs560397436
NM_000552.4(VWF):c.3426T>C (p.Cys1142=) rs535693463
NM_000552.4(VWF):c.3485C>T (p.Pro1162Leu) rs566672558
NM_000552.4(VWF):c.3486A>G (p.Pro1162=) rs546732699
NM_000552.4(VWF):c.3579T>C (p.Pro1193=) rs16933969
NM_000552.4(VWF):c.3795G>A (p.Pro1265=) rs2228319
NM_000552.4(VWF):c.390C>T (p.Ser130=) rs2229444
NM_000552.4(VWF):c.4138A>G (p.Ile1380Val) rs11063988
NM_000552.4(VWF):c.4141A>G (p.Thr1381Ala) rs216311
NM_000552.4(VWF):c.4304A>G (p.Asn1435Ser) rs11063987
NM_000552.4(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000552.4(VWF):c.4641T>C (p.Thr1547=) rs216310
NM_000552.4(VWF):c.4665A>C (p.Ala1555=) rs1800384
NM_000552.4(VWF):c.4693G>T (p.Val1565Leu) rs1800385
NM_000552.4(VWF):c.5667C>T (p.Pro1889=) rs56981471
NM_000552.4(VWF):c.5844C>T (p.Cys1948=) rs216902
NM_000552.4(VWF):c.6187C>T (p.Pro2063Ser) rs61750615
NM_000552.4(VWF):c.6345T>A (p.Thr2115=) rs11537642
NM_000552.4(VWF):c.6554G>A (p.Arg2185Gln) rs2229446
NM_000552.4(VWF):c.657+11A>C rs7980045
NM_000552.4(VWF):c.6798+14C>T rs7315124
NM_000552.4(VWF):c.6799-14C>T rs177702
NM_000552.4(VWF):c.6846A>G (p.Thr2282=) rs1053523
NM_000552.4(VWF):c.7082-7C>T rs216868
NM_000552.4(VWF):c.7239T>C (p.Thr2413=) rs216867
NM_000552.4(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161
NM_000552.4(VWF):c.7771-13C>T rs11063962
NM_000552.4(VWF):c.7997C>T (p.Thr2666Met) rs78353028
NM_000552.4(VWF):c.8113G>A (p.Gly2705Arg) rs7962217
NM_000552.4(VWF):c.954T>A (p.Asn318Lys) rs1800387
NM_000602.4(SERPINE1):c.*1186C>T rs2227714
NM_000602.4(SERPINE1):c.*1358T>C rs2227700
NM_000602.4(SERPINE1):c.*690T>C rs7241
NM_000602.4(SERPINE1):c.*752C>A rs374321581
NM_000602.4(SERPINE1):c.*892G>A rs1050813
NM_000602.4(SERPINE1):c.43G>A (p.Ala15Thr) rs6092
NM_000602.4(SERPINE1):c.49G>A (p.Val17Ile) rs6090
NM_000602.4(SERPINE1):c.555G>C (p.Arg185=) rs201293550
NM_001994.2(F13B):c.*143G>A rs698859
NM_003052.5(SLC34A1):c.*179G>A rs141664220
NM_003052.5(SLC34A1):c.*361T>C rs539754545
NM_003052.5(SLC34A1):c.*485G>A rs143160780
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220
NM_005141.4(FGB):c.*1369G>A rs2227426
NM_005141.4(FGB):c.*1517T>C rs2059502
NM_005141.4(FGB):c.*1617A>T rs2059503
NM_005141.4(FGB):c.*373G>A rs2227420
NM_005141.4(FGB):c.*443G>A rs2227422
NM_005141.4(FGB):c.*447T>C rs2227423
NM_005141.4(FGB):c.*918C>G rs2227424
NM_005141.4(FGB):c.1113A>G (p.Ser371=) rs6057
NM_005141.4(FGB):c.1125C>T (p.Tyr375=) rs4681
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) rs4220
NM_005141.4(FGB):c.291C>T (p.His97=) rs6060
NM_005141.4(FGB):c.318T>C (p.Cys106=) rs6055
NM_005141.4(FGB):c.843G>T (p.Val281=) rs6058
NM_005570.4(LMAN1):c.*1799A>C rs1043334
NM_005570.4(LMAN1):c.*1822G>T rs151128517
NM_005570.4(LMAN1):c.*2063C>G rs7239187
NM_005570.4(LMAN1):c.*2217G>A rs7236294
NM_005570.4(LMAN1):c.*2387A>G rs34679996
NM_005570.4(LMAN1):c.*2405C>A rs34753206
NM_005570.4(LMAN1):c.*3107T>A rs3760558
NM_005570.4(LMAN1):c.*490C>T rs117480907
NM_005570.4(LMAN1):c.116T>C (p.Val39Ala) rs33926449
NM_005570.4(LMAN1):c.1228A>T (p.Met410Leu) rs2298711
NM_005570.4(LMAN1):c.351A>G (p.Arg117=) rs1127220
NM_005570.4(LMAN1):c.41G>A (p.Arg14Gln) rs1043302
NM_005570.4(LMAN1):c.539+5GT[3] rs3835325
NM_021870.3(FGG):c.*488C>T rs191297318
NM_021870.3(FGG):c.418T>C (p.Tyr140His) rs2066870
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) rs184635235
NM_021871.4(FGA):c.1444G>A (p.Val482Met) rs139146037
NM_021871.4(FGA):c.1542T>C (p.Pro514=) rs4766
NM_021871.4(FGA):c.1838A>G (p.His613Arg) rs201686865
NM_021871.4(FGA):c.904C>G (p.Pro302Ala) rs200203992
NM_139279.5(MCFD2):c.*1010G>T rs138758588
NM_139279.5(MCFD2):c.*1042C>T rs111603188
NM_139279.5(MCFD2):c.*133A>T rs75416242
NM_139279.5(MCFD2):c.*1346G>T rs111535939
NM_139279.5(MCFD2):c.*1525C>G rs7596198
NM_139279.5(MCFD2):c.*1677T>G rs28770495
NM_139279.5(MCFD2):c.*1908G>C rs6743994
NM_139279.5(MCFD2):c.*1924T>C rs6715391
NM_139279.5(MCFD2):c.*2075C>T rs6743966
NM_139279.5(MCFD2):c.*2163A>G rs140937815
NM_139279.5(MCFD2):c.*2454C>A rs1051317
NM_139279.5(MCFD2):c.*2658C>T rs17035887
NM_139279.5(MCFD2):c.*2675C>G rs17035884
NM_139279.5(MCFD2):c.*3318T>C rs8861
NM_139279.5(MCFD2):c.*498A>G rs144674773
NM_139279.5(MCFD2):c.*693G>C rs28516550

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