ClinVar Miner

List of variants reported as likely benign for coagulation protein disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 244
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.5419+12A>G rs6009 0.92435
NM_000552.5(VWF):c.7239T>C (p.Thr2413=) rs216867 0.84456
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_000130.5(F5):c.*1115C>T rs2040444 0.48344
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_000552.5(VWF):c.5844C>T (p.Cys1948=) rs216902 0.37406
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.5290A>G (p.Met1764Val) rs6030 0.29437
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.25897
NM_000130.5(F5):c.*1601C>T rs2187952 0.25334
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24159
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_000552.5(VWF):c.1182A>C (p.Ser394=) rs1800376 0.24101
NM_000130.5(F5):c.2235T>C (p.Asn745=) rs6017 0.23336
NM_000552.5(VWF):c.1173A>T (p.Thr391=) rs1800375 0.23172
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_000552.5(VWF):c.6846A>G (p.Thr2282=) rs1053523 0.15412
NM_000552.5(VWF):c.954T>A (p.Asn318Lys) rs1800387 0.15296
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_000552.5(VWF):c.1411G>A (p.Val471Ile) rs1800377 0.11338
NM_000552.5(VWF):c.3240T>C (p.Tyr1080=) rs4021576 0.09832
NM_000130.5(F5):c.1242A>G (p.Lys414=) rs6035 0.08632
NM_000552.5(VWF):c.4665A>C (p.Ala1555=) rs1800384 0.08554
NM_000552.5(VWF):c.4693G>T (p.Val1565Leu) rs1800385 0.08527
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_000129.4(F13A1):c.1704A>G (p.Glu568=) rs5986 0.07753
NM_000552.5(VWF):c.3579T>C (p.Pro1193=) rs16933969 0.06947
NM_000552.5(VWF):c.1626G>A (p.Ala542=) rs35365059 0.06825
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_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_000552.5(VWF):c.3426T>C (p.Cys1142=) rs535693463 0.05771
NM_000130.5(F5):c.730+7C>T rs6023 0.05754
NM_000552.5(VWF):c.3486A>G (p.Pro1162=) rs546732699 0.05708
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) rs2228317 0.05696
NM_000552.5(VWF):c.3485C>T (p.Pro1162Leu) rs566672558 0.05671
NM_000552.5(VWF):c.7771-13C>T rs11063962 0.05514
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.6665A>G (p.Asp2222Gly) rs6027 0.05290
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_000552.5(VWF):c.3258C>T (p.Tyr1086=) rs112634786 0.04897
NM_000552.5(VWF):c.3414C>T (p.Asn1138=) rs560397436 0.04853
NM_000129.4(F13A1):c.*443G>A rs3024486 0.04832
NM_000130.5(F5):c.4210C>T (p.Pro1404Ser) rs9332608 0.04654
NM_000129.4(F13A1):c.*112G>T rs3024463 0.04625
NM_000552.5(VWF):c.6345T>A (p.Thr2115=) rs11537642 0.04599
NM_000552.5(VWF):c.8113G>A (p.Gly2705Arg) rs7962217 0.04240
NM_019616.4(F7):c.*1146A>G rs3093255 0.04222
NM_000552.5(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161 0.04046
NM_019616.4(F7):c.*673A>G rs3093251 0.03895
NM_000552.5(VWF):c.3795G>A (p.Pro1265=) rs2228319 0.03767
NM_000552.5(VWF):c.4138A>G (p.Ile1380Val) rs11063988 0.03649
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_000130.5(F5):c.4189C>T (p.Leu1397Phe) rs13306334 0.03498
NM_000552.5(VWF):c.4304A>G (p.Asn1435Ser) rs11063987 0.03448
NM_000504.4(F10):c.-40C>T rs3212994 0.03388
NM_000552.5(VWF):c.6798+14C>T rs7315124 0.03357
NM_019616.4(F7):c.*1275A>G rs3093257 0.03241
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701 0.03115
NM_019616.4(F7):c.*639G>A rs3093250 0.02923
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_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_000552.5(VWF):c.7997C>T (p.Thr2666Met) rs78353028 0.02215
NM_019616.4(F7):c.*888G>A rs79733913 0.02191
NM_000552.5(VWF):c.1945+15T>A rs71582861 0.02177
NM_000552.5(VWF):c.1794C>T (p.Ala598=) rs35302737 0.02100
NM_000130.5(F5):c.*1118G>A rs9332675 0.02056
NM_000552.5(VWF):c.3379+13G>A rs2885752 0.01966
NM_000129.4(F13A1):c.614A>T (p.Tyr205Phe) rs3024477 0.01940
NM_000130.5(F5):c.43G>A (p.Gly15Ser) rs9332485 0.01876
NM_000552.5(VWF):c.1433-10T>C rs66722092 0.01853
NM_000552.5(VWF):c.5667C>T (p.Pro1889=) rs56981471 0.01850
NM_000504.4(F10):c.399C>T (p.Asn133=) rs5962 0.01840
NM_001994.3(F13B):c.1707T>G (p.Asp569Glu) rs6000 0.01612
NM_000130.5(F5):c.2925C>T (p.Pro975=) rs41272457 0.01542
NM_000552.5(VWF):c.6902-5T>A rs112046757 0.01517
NM_001994.3(F13B):c.*89G>C rs17549873 0.01500
NM_019616.4(F7):c.*1649G>A rs3093259 0.01345
NM_000130.5(F5):c.2743A>T (p.Thr915Ser) rs9332695 0.01344
NM_000821.7(GGCX):c.*781A>C rs142680507 0.01337
NM_139279.6(MCFD2):c.*2761T>C rs193204253 0.01332
NM_000552.5(VWF):c.5843-8C>G rs34444862 0.01303
NM_000552.5(VWF):c.390C>T (p.Ser130=) rs2229444 0.01260
NM_000130.5(F5):c.*476C>T rs72708017 0.01259
NM_000130.5(F5):c.816C>T (p.Asn272=) rs9332578 0.01203
NM_000128.4(F11):c.-54G>A rs4253814 0.01170
NM_019616.4(F7):c.64+983G>A rs3093238 0.01072
NM_000133.4(F9):c.1095A>G (p.Ser365=) rs112057482 0.01021
NM_019616.4(F7):c.64+8C>T rs10482844 0.00989
NM_000129.4(F13A1):c.1689G>A (p.Gly563=) rs58315745 0.00958
NM_139279.6(MCFD2):c.*1407C>T rs138459734 0.00806
NM_000130.5(F5):c.5460G>A (p.Met1820Ile) rs6026 0.00789
NM_005570.4(LMAN1):c.*164A>G rs41332251 0.00758
NM_000602.5(SERPINE1):c.*180C>T rs41334349 0.00755
NM_019616.4(F7):c.*533A>C rs116688254 0.00744
NM_000130.5(F5):c.158+13T>C rs116416322 0.00733
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) rs115119084 0.00679
NM_000130.5(F5):c.*1488T>C rs75764442 0.00676
NM_005570.4(LMAN1):c.936C>T (p.Pro312=) rs145829103 0.00609
NM_000128.4(F11):c.1016G>T (p.Cys339Phe) rs5967 0.00586
NM_005141.5(FGB):c.1113A>G (p.Ser371=) rs6057 0.00574
NM_139279.6(MCFD2):c.310-11G>C rs144139062 0.00567
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_000552.5(VWF):c.5664+15G>A rs7961539 0.00560
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_000505.4(F12):c.398-12C>T rs56285942 0.00495
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NM_000130.5(F5):c.*1290G>A rs9332677 0.00480
NM_139279.6(MCFD2):c.*569G>A rs149363149 0.00473
NM_000506.5(F2):c.1824C>T (p.Arg608=) rs3136532 0.00472
NM_000552.5(VWF):c.55+8C>A rs114713980 0.00452
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_021871.4(FGA):c.1542T>C (p.Pro514=) rs4766 0.00426
NM_000821.7(GGCX):c.*962G>C rs78372899 0.00425
NM_000132.4(F8):c.2994T>G (p.His998Gln) rs149853218 0.00419
NM_024006.6(VKORC1):c.129C>T (p.Cys43=) rs61742233 0.00401
NM_000821.7(GGCX):c.*1277G>A rs60864851 0.00397
NM_139279.6(MCFD2):c.*354C>T rs191255002 0.00396
NM_000130.5(F5):c.6309G>A (p.Leu2103=) rs35369423 0.00361
NM_000132.4(F8):c.389-9C>T rs35621875 0.00356
NM_021870.3(FGG):c.78+9G>A rs2066857 0.00345
NM_005570.4(LMAN1):c.*1921T>C rs74735102 0.00327
NM_000130.5(F5):c.2906A>G (p.Asn969Ser) rs9332604 0.00302
NM_000505.3(F12):c.-57G>C rs41309132 0.00297
NM_000128.4(F11):c.1304+12G>A rs116667976 0.00295
NM_000504.4(F10):c.396C>T (p.Asp132=) rs111737184 0.00287
NM_000821.7(GGCX):c.189C>T (p.Ser63=) rs41290035 0.00277
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_000821.7(GGCX):c.582C>T (p.His194=) rs76767923 0.00271
NM_000602.5(SERPINE1):c.*950C>T rs536144892 0.00262
NM_021871.4(FGA):c.1366A>G (p.Thr456Ala) rs2070031 0.00262
NM_000602.5(SERPINE1):c.*661T>C rs138333231 0.00259
NM_000128.4(F11):c.453C>T (p.Tyr151=) rs34807019 0.00248
NM_000505.4(F12):c.418C>G (p.Leu140Val) rs35515200 0.00247
NM_000130.5(F5):c.*2037G>A rs550454517 0.00246
NM_000130.5(F5):c.3776C>A (p.Ser1259Tyr) rs150104888 0.00246
NM_005570.4(LMAN1):c.821C>T (p.Pro274Leu) rs41476148 0.00241
NM_021871.4(FGA):c.181-14C>T rs190703077 0.00240
NM_021871.4(FGA):c.300G>A (p.Lys100=) rs112877216 0.00240
NM_003052.5(SLC34A1):c.*179G>A rs141664220 0.00237
NM_000505.4(F12):c.-62C>T rs187018744 0.00223
NM_000602.5(SERPINE1):c.*1787T>C rs182671641 0.00218
NM_019616.4(F7):c.1104C>T (p.Ala368=) rs6044 0.00216
NM_000602.5(SERPINE1):c.*1521T>A rs180692432 0.00204
NM_000506.5(F2):c.1298+11G>C rs144587241 0.00191
NM_019616.4(F7):c.64+4C>T rs187128791 0.00178
NM_000821.7(GGCX):c.*4726A>C rs377381751 0.00160
NM_000130.5(F5):c.6193+7T>A rs185294741 0.00156
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr) rs61742245 0.00150
NM_000821.7(GGCX):c.*463G>A rs553383801 0.00149
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_021870.3(FGG):c.*535A>G rs146143405 0.00140
NM_000132.4(F8):c.*1379A>G rs36101366 0.00127
NM_000133.4(F9):c.*1048G>A rs752396182 0.00125
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
NM_000133.4(F9):c.819T>C (p.Val273=) rs1800455 0.00110
NM_000602.5(SERPINE1):c.*440T>C rs58167134 0.00104
NM_003052.5(SLC34A1):c.*361T>C rs539754545 0.00096
NM_000505.4(F12):c.1299C>T (p.Asn433=) rs17876033 0.00093
NM_000821.7(GGCX):c.*3067T>C rs139304933 0.00090
NM_000821.7(GGCX):c.*680G>C rs139300235 0.00090
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_005570.4(LMAN1):c.214+7C>T rs2277728 0.00080
NM_139279.6(MCFD2):c.*557G>A rs185756640 0.00078
NM_000130.5(F5):c.3504A>C (p.Thr1168=) rs13306332 0.00077
NM_000132.4(F8):c.102C>T (p.Asp34=) rs1800283 0.00070
NM_000821.7(GGCX):c.*1916C>T rs192730155 0.00069
NM_000602.5(SERPINE1):c.357G>A (p.Ala119=) rs6091 0.00050
NM_000133.4(F9):c.907C>T (p.His303Tyr) rs1801202 0.00044
NM_005141.5(FGB):c.534G>C (p.Lys178Asn) rs201909029 0.00038
NM_024006.6(VKORC1):c.352G>C (p.Val118Leu) rs753570105 0.00036
NM_000505.4(F12):c.-8C>T rs369991760 0.00032
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) rs184635235 0.00031
NM_000128.4(F11):c.*884C>T rs117035365 0.00024
NM_000132.4(F8):c.*30G>A rs376482768 0.00020
NM_000132.4(F8):c.1064G>A (p.Arg355Gln) rs146581224 0.00019
NM_024006.6(VKORC1):c.*243G>A rs141753512 0.00019
NM_000821.7(GGCX):c.15C>T (p.Ala5=) rs199867398 0.00018
NM_000128.4(F11):c.1843G>A (p.Val615Met) rs202061241 0.00016
NM_000130.5(F5):c.*838T>C rs376103455 0.00016
NM_000132.4(F8):c.2383A>G (p.Arg795Gly) rs2228152 0.00016
NM_000132.4(F8):c.2212T>G (p.Tyr738Asp) rs201721215 0.00015
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_005141.5(FGB):c.510T>A (p.Asn170Lys) rs149963684 0.00011
NM_000133.4(F9):c.769G>A (p.Val257Ile) rs200608775 0.00010
NM_000504.4(F10):c.71-8C>T rs374210821 0.00010
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633 0.00010
NM_000132.4(F8):c.3885C>G (p.Asn1295Lys) rs201393905 0.00009
NM_021870.3(FGG):c.274C>T (p.Leu92Phe) rs142286849 0.00009
NM_000129.4(F13A1):c.1184C>T (p.Ala395Val) rs76451285 0.00008
NM_000821.7(GGCX):c.*165A>G rs181695165 0.00007
NM_000821.7(GGCX):c.*2822C>T rs190959810 0.00007
NM_019616.4(F7):c.*1503C>T rs551279029 0.00007
NM_000821.7(GGCX):c.*2811T>C rs118153916 0.00006
NM_000821.7(GGCX):c.1378G>A (p.Val460Ile) rs149078813 0.00006
NM_021871.4(FGA):c.1444G>A (p.Val482Met) rs139146037 0.00006
NM_000132.4(F8):c.2217G>A (p.Glu739=) rs781850654 0.00005
NM_000132.4(F8):c.748A>G (p.Met250Val) rs781943293 0.00005
NM_000133.4(F9):c.108C>T (p.Asn36=) rs184837275 0.00004
NM_000133.4(F9):c.658T>A (p.Ser220Thr) rs777361659 0.00004
NM_000132.4(F8):c.2535C>A (p.Asp845Glu) rs200316756 0.00003
NM_000602.5(SERPINE1):c.1088-9C>T rs762527672 0.00003
NM_000132.4(F8):c.3981G>A (p.Thr1327=) rs374245599 0.00002
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys) rs538359973 0.00001
NM_000132.4(F8):c.6957G>A (p.Pro2319=) rs200902529 0.00001
NM_000821.7(GGCX):c.*4314T>C rs530247310 0.00001
NM_000129.4(F13A1):c.-18-5dup rs750373197
NM_000130.5(F5):c.*1436T>A rs9332678
NM_000130.5(F5):c.*2328G>C rs6427196
NM_000130.5(F5):c.5419+11C>T rs6008
NM_000130.5(F5):c.564G>C (p.Gly188=) rs1557573
NM_000132.4(F8):c.*992A>G rs782499043
NM_000132.4(F8):c.4679C>G (p.Pro1560Arg) rs782791962
NM_000505.4(F12):c.1251-7C>T rs375340260
NM_000552.5(VWF):c.1946-17_1946-15dup rs10622288
NM_000552.5(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000821.7(GGCX):c.*1282G>A rs574843893
NM_005570.4(LMAN1):c.*860T>G rs41331148
NM_005570.4(LMAN1):c.539+5GT[3] rs3835325
NM_019616.4(F7):c.*1240C>G rs3093256
NM_019616.4(F7):c.*82T>C rs368359845

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