ClinVar Miner

List of variants reported as likely pathogenic for blood coagulation disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (155):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 299
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HGVS dbSNP gnomAD frequency
NM_001001548.3(CD36):c.429+2T>C rs3211893 0.00220
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) rs373076763 0.00021
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 0.00014
NM_001001548.3(CD36):c.430-2A>G rs3211901 0.00013
NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly) rs121908472 0.00012
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_000204.5(CFI):c.1019T>C (p.Ile340Thr) rs769419740 0.00007
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000204.5(CFI):c.148C>G (p.Pro50Ala) rs144082872 0.00006
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
NM_000212.3(ITGB3):c.356G>A (p.Arg119Gln) rs147782061 0.00005
NM_000312.4(PROC):c.541T>G (p.Phe181Val) rs199469470 0.00005
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His) rs750323424 0.00004
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) rs367585605 0.00004
NM_019616.4(F7):c.403G>A (p.Gly135Ser) rs763458490 0.00004
NM_139027.6(ADAMTS13):c.3488G>A (p.Arg1163Gln) rs782649881 0.00004
NM_000128.4(F11):c.3G>T (p.Met1Ile) rs755700350 0.00003
NM_000173.7(GP1BA):c.1620G>A (p.Trp540Ter) rs267606849 0.00003
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter) rs140277700 0.00003
NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His) rs121908471 0.00003
NM_000133.4(F9):c.163T>A (p.Phe55Ile) rs759987427 0.00002
NM_000312.4(PROC):c.169C>T (p.Arg57Trp) rs757583846 0.00002
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys) rs201457594 0.00002
NM_181507.2(HPS5):c.1862+1G>A rs778500897 0.00002
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg) rs754104059 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000173.7(GP1BA):c.586C>T (p.Gln196Ter) rs371226354 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000195.5(HPS1):c.1858-1G>A rs758797992 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000204.5(CFI):c.1025G>A (p.Gly342Glu) rs1312234258 0.00001
NM_000204.5(CFI):c.1A>G (p.Met1Val) rs770655669 0.00001
NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg) rs1022839092 0.00001
NM_000212.3(ITGB3):c.353T>A (p.Leu118His) rs368325996 0.00001
NM_000212.3(ITGB3):c.431T>G (p.Met144Arg) rs77963874 0.00001
NM_000212.3(ITGB3):c.778-2A>G rs749261962 0.00001
NM_000212.3(ITGB3):c.79+1G>A rs2064977538 0.00001
NM_000312.4(PROC):c.124C>T (p.Arg42Cys) rs774572099 0.00001
NM_000313.4(PROS1):c.1064G>A (p.Arg355His) rs780863931 0.00001
NM_000506.5(F2):c.1814_1815del (p.His605fs) rs776618390 0.00001
NM_000508.3(FGA):c.92G>T (p.Gly31Val) rs121909605 0.00001
NM_003664.5(AP3B1):c.3131+1G>A rs766116144 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro) rs121434297 0.00001
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00001
NM_019616.4(F7):c.1219G>A (p.Ala407Thr) rs755377592 0.00001
NM_019616.4(F7):c.505+78G>A rs764741909 0.00001
NM_019616.4(F7):c.517T>C (p.Cys173Arg) rs372577568 0.00001
NM_021871.4(FGA):c.364+1G>A rs778779380 0.00001
NM_022081.6(HPS4):c.706+1G>A rs374343385 0.00001
NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter) rs281865112 0.00001
NM_032383.5(HPS3):c.2318del (p.Thr773fs) rs866769733 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_139027.6(ADAMTS13):c.1058C>T (p.Pro353Leu) rs281875338 0.00001
NM_139027.6(ADAMTS13):c.1584+5G>A rs782235228 0.00001
NM_139027.6(ADAMTS13):c.2068G>A (p.Ala690Thr) rs374840594 0.00001
NM_139027.6(ADAMTS13):c.330+2T>C rs1474290508 0.00001
NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys) rs281875340 0.00001
NM_181507.2(HPS5):c.719G>C (p.Arg240Pro) rs764296457 0.00001
NM_000064.4(C3):c.1003+1G>A
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.2290C>T (p.Arg764Ter)
NM_000064.4(C3):c.2615del (p.Phe872fs)
NM_000064.4(C3):c.276del (p.Asn93fs)
NM_000064.4(C3):c.2825_2826del (p.Val942fs)
NM_000064.4(C3):c.2863+1G>T
NM_000064.4(C3):c.3687del (p.Asn1229fs)
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000064.4(C3):c.4918del (p.Glu1640fs)
NM_000064.4(C3):c.774-1G>T
NM_000128.4(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000130.5(F5):c.1059del (p.Phe353fs)
NM_000130.5(F5):c.1297-1G>C
NM_000130.5(F5):c.1830_1831dup (p.His611fs) rs1571577365
NM_000130.5(F5):c.2021del (p.Lys674fs)
NM_000130.5(F5):c.2079T>G (p.Tyr693Ter)
NM_000130.5(F5):c.2846del (p.Leu949fs)
NM_000130.5(F5):c.4962_4971+3del
NM_000130.5(F5):c.5453del (p.Leu1818fs)
NM_000130.5(F5):c.5816T>G (p.Leu1939Ter)
NM_000132.4(F8):c.1601T>C (p.Val534Ala) rs1557281261
NM_000132.4(F8):c.192_193del (p.Tyr65fs)
NM_000132.4(F8):c.265+4A>G
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)
NM_000132.4(F8):c.6518C>G (p.Thr2173Ser)
NM_000133.4(F9):c.1024A>G (p.Thr342Ala) rs1603267362
NM_000133.4(F9):c.384T>A (p.Cys128Ter) rs780435919
NM_000133.4(F9):c.518C>G (p.Ala173Gly)
NM_000173.7(GP1BA):c.1009C>T (p.Gln337Ter)
NM_000173.7(GP1BA):c.1426del (p.Ser476fs)
NM_000173.7(GP1BA):c.1436T>A (p.Leu479Ter)
NM_000173.7(GP1BA):c.1480del (p.Thr494fs) rs759573909
NM_000173.7(GP1BA):c.1699C>T (p.Gln567Ter)
NM_000173.7(GP1BA):c.298del (p.Leu100fs)
NM_000173.7(GP1BA):c.376A>G (p.Asn126Asp)
NM_000173.7(GP1BA):c.624del (p.Phe208fs)
NM_000173.7(GP1BA):c.70A>T (p.Lys24Ter)
NM_000173.7(GP1BA):c.783dup (p.Val262fs)
NM_000173.7(GP1BA):c.883del (p.Tyr295fs)
NM_000186.4(CFH):c.1337-2A>G
NM_000186.4(CFH):c.139del (p.Gln47fs)
NM_000186.4(CFH):c.1673G>A (p.Trp558Ter)
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000186.4(CFH):c.2236+1G>C
NM_000186.4(CFH):c.2575C>T (p.Gln859Ter)
NM_000186.4(CFH):c.2602dup (p.Ile868fs) rs2149113459
NM_000186.4(CFH):c.336T>A (p.Tyr112Ter)
NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter) rs121913051
NM_000186.4(CFH):c.39G>A (p.Trp13Ter)
NM_000186.4(CFH):c.620-2A>G
NM_000195.5(HPS1):c.100G>T (p.Glu34Ter)
NM_000195.5(HPS1):c.1090del (p.Pro363_Leu364insTer)
NM_000195.5(HPS1):c.117+1G>A
NM_000195.5(HPS1):c.1172del (p.Leu391fs)
NM_000195.5(HPS1):c.1335+1G>A
NM_000195.5(HPS1):c.1344G>C (p.Trp448Cys)
NM_000195.5(HPS1):c.1405C>T (p.Gln469Ter)
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs) rs758028806
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) rs769446880
NM_000195.5(HPS1):c.151_156delinsATCA (p.Leu51fs)
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
NM_000195.5(HPS1):c.1837del (p.Leu613fs)
NM_000195.5(HPS1):c.197C>A (p.Ser66Ter)
NM_000195.5(HPS1):c.1A>G (p.Met1Val)
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.256-2A>C
NM_000195.5(HPS1):c.2T>C (p.Met1Thr)
NM_000195.5(HPS1):c.310dup (p.Asp104fs)
NM_000195.5(HPS1):c.321dup (p.Lys108fs)
NM_000195.5(HPS1):c.484C>T (p.Gln162Ter)
NM_000195.5(HPS1):c.551_552del (p.Ile184fs) rs1591092841
NM_000195.5(HPS1):c.558_559del (p.Leu187fs)
NM_000195.5(HPS1):c.868-15_877dup
NM_000195.5(HPS1):c.904_917dup (p.Pro307fs)
NM_000195.5(HPS1):c.938-1G>A
NM_000195.5(HPS1):c.987+1G>A
NM_000204.5(CFI):c.1122_1123insT (p.Ile375fs)
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter) rs752671716
NM_000204.5(CFI):c.1300del (p.Glu434fs)
NM_000204.5(CFI):c.1326dup (p.Asp443fs)
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter) rs2126178088
NM_000204.5(CFI):c.413del (p.Met138fs)
NM_000204.5(CFI):c.57+1G>A
NM_000204.5(CFI):c.57+1G>C rs1425827135
NM_000204.5(CFI):c.748C>T (p.Gln250Ter)
NM_000204.5(CFI):c.764G>A (p.Cys255Tyr)
NM_000204.5(CFI):c.772+1G>T
NM_000204.5(CFI):c.773-1G>A
NM_000204.5(CFI):c.905-1G>C
NM_000212.3(ITGB3):c.1031A>C (p.Tyr344Ser) rs2065118116
NM_000212.3(ITGB3):c.1813G>A (p.Gly605Ser)
NM_000212.3(ITGB3):c.1913+5G>T rs764779088
NM_000212.3(ITGB3):c.709_710del (p.Ser237fs) rs746626039
NM_000212.3(ITGB3):c.725G>A (p.Arg242Gln)
NM_000212.3(ITGB3):c.939+1G>T
NM_000301.5(PLG):c.1987C>T (p.Arg663Ter)
NM_000301.5(PLG):c.2019-1G>A rs2115181746
NM_000301.5(PLG):c.292+1G>C
NM_000301.5(PLG):c.910C>G (p.Pro304Ala)
NM_000301.5(PLG):c.948C>A (p.Cys316Ter)
NM_000312.4(PROC):c.303C>A (p.Cys101Ter) rs764808999
NM_000361.3(THBD):c.127del (p.Ala43fs)
NM_000361.3(THBD):c.1360del (p.Val454fs)
NM_000361.3(THBD):c.459G>A (p.Trp153Ter)
NM_000361.3(THBD):c.920C>A (p.Ser307Ter)
NM_000419.5(ITGA2B):c.2935G>T (p.Glu979Ter)
NM_000419.5(ITGA2B):c.3092del (p.Leu1031fs) rs2143417444
NM_000419.5(ITGA2B):c.517G>T (p.Glu173Ter)
NM_000419.5(ITGA2B):c.879G>A (p.Trp293Ter)
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys) rs28929469
NM_000488.4(SERPINC1):c.318dup (p.Asn107Ter)
NM_000488.4(SERPINC1):c.41+3A>T
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) rs121909569
NM_000504.4(F10):c.1331C>T (p.Ala444Val)
NM_000504.4(F10):c.183_184delinsTTGCTCATACGAAGAGGCCC (p.Arg68_Glu69insSerTyrGluGluAlaArg)
NM_000506.5(F2):c.317-1G>A
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys) rs121909613
NM_000552.5(VWF):c.3955del (p.Val1319fs)
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe) rs61750083
NM_001261826.3(AP3D1):c.2131G>A (p.Val711Ile)
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.500_502delinsTT (p.Ser167fs)
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001994.3(F13B):c.647T>A (p.Leu216Ter)
NM_003664.5(AP3B1):c.2078-1G>A
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter) rs1746480237
NM_003664.5(AP3B1):c.3149_3150del (p.Val1050fs)
NM_005570.4(LMAN1):c.15del (p.Arg5fs)
NM_005570.4(LMAN1):c.49_86dup (p.Gly30fs)
NM_005570.4(LMAN1):c.822G>A (p.Pro274=)
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)
NM_005957.5(MTHFR):c.236+1G>A rs1057519359
NM_005957.5(MTHFR):c.727T>G (p.Cys243Gly)
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_012388.4(BLOC1S6):c.83-1G>A
NM_019616.4(F7):c.1043G>A (p.Cys348Tyr)
NM_019616.4(F7):c.1051C>T (p.Gln351Ter)
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) rs121964934
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.581G>A (p.Gly194Asp)
NM_019616.4(F7):c.739+1G>A
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_021871.4(FGA):c.1055del (p.Pro352fs) rs1299596156
NM_021871.4(FGA):c.1339del (p.Glu447fs)
NM_021871.4(FGA):c.1452del (p.Ser485fs)
NM_021871.4(FGA):c.1736dup (p.Tyr579Ter)
NM_021871.4(FGA):c.294_296del (p.Asn99del)
NM_021871.4(FGA):c.607C>T (p.Gln203Ter)
NM_021871.4(FGA):c.922C>T (p.Arg308Ter) rs776817952
NM_022081.6(HPS4):c.1714-1G>T
NM_022081.6(HPS4):c.1847-1G>A
NM_022081.6(HPS4):c.1849_1850del (p.Asn617fs)
NM_022081.6(HPS4):c.41+1_41+7del
NM_022081.6(HPS4):c.502-1G>T
NM_022081.6(HPS4):c.904G>T (p.Glu302Ter)
NM_024747.6(HPS6):c.1086del (p.Met363fs)
NM_024747.6(HPS6):c.155del (p.Val52fs) rs1590262450
NM_024747.6(HPS6):c.1612dup (p.Gln538fs)
NM_024747.6(HPS6):c.1674del (p.Asn559fs)
NM_024747.6(HPS6):c.1784G>A (p.Trp595Ter)
NM_024747.6(HPS6):c.1A>T (p.Met1Leu)
NM_024747.6(HPS6):c.27del (p.Leu10fs)
NM_024747.6(HPS6):c.327del (p.Pro110fs)
NM_024747.6(HPS6):c.32C>A (p.Ser11Ter)
NM_024747.6(HPS6):c.560dup (p.His187fs)
NM_032122.5(DTNBP1):c.79_83del (p.Ser27fs) rs757126788
NM_032383.5(HPS3):c.1107_1119delinsC (p.Pro370_Ser373del)
NM_032383.5(HPS3):c.1246-2A>T rs1282659169
NM_032383.5(HPS3):c.1330del (p.His444fs)
NM_032383.5(HPS3):c.1509+1G>A rs746906314
NM_032383.5(HPS3):c.1686C>A (p.Tyr562Ter) rs1292407171
NM_032383.5(HPS3):c.1691+1G>T
NM_032383.5(HPS3):c.1842_1843del (p.Leu614_Tyr615insTer) rs1363245838
NM_032383.5(HPS3):c.2090_2094del (p.Met697fs) rs1032570128
NM_032383.5(HPS3):c.2425A>T (p.Arg809Ter)
NM_032383.5(HPS3):c.2440C>T (p.Gln814Ter)
NM_032383.5(HPS3):c.248dup (p.Asn83fs)
NM_032383.5(HPS3):c.2589+1G>A rs281865095
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2800_2801del (p.Leu934fs)
NM_032383.5(HPS3):c.395_407del (p.Leu132fs)
NM_032383.5(HPS3):c.403del (p.Ala135fs) rs748883997
NM_032383.5(HPS3):c.408del (p.Leu137fs)
NM_032383.5(HPS3):c.465_468del (p.Leu156fs)
NM_032383.5(HPS3):c.46dup (p.Val16fs)
NM_032383.5(HPS3):c.655G>T (p.Glu219Ter)
NM_032383.5(HPS3):c.660_661del (p.Arg220fs) rs1363164647
NM_032383.5(HPS3):c.691C>T (p.Arg231Ter)
NM_032383.5(HPS3):c.695dup (p.Arg233fs)
NM_032383.5(HPS3):c.731C>G (p.Ser244Ter)
NM_032383.5(HPS3):c.87del (p.Arg30fs)
NM_032383.5(HPS3):c.884+1G>A
NM_139027.6(ADAMTS13):c.1266del (p.Cys423fs)
NM_139027.6(ADAMTS13):c.1308+2_1308+5del
NM_139027.6(ADAMTS13):c.1787-1G>A
NM_139027.6(ADAMTS13):c.2173C>T (p.Gln725Ter)
NM_139027.6(ADAMTS13):c.2237G>A (p.Trp746Ter)
NM_139027.6(ADAMTS13):c.2272T>C (p.Cys758Arg) rs281875300
NM_139027.6(ADAMTS13):c.2555del (p.Lys852fs)
NM_139027.6(ADAMTS13):c.280C>T (p.Gln94Ter)
NM_139027.6(ADAMTS13):c.305G>A (p.Arg102His)
NM_139027.6(ADAMTS13):c.3400+161_3400+175del
NM_139027.6(ADAMTS13):c.3604_3605dup (p.Leu1202fs)
NM_139027.6(ADAMTS13):c.703G>T (p.Asp235Tyr)
NM_139027.6(ADAMTS13):c.781del (p.Ala261fs)
NM_172351.3(CD46):c.518A>G (p.His173Arg)
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_181507.2(HPS5):c.1049C>G (p.Ser350Ter)
NM_181507.2(HPS5):c.1178dup (p.Leu393fs)
NM_181507.2(HPS5):c.1217del (p.Asp406fs)
NM_181507.2(HPS5):c.1252del (p.Glu418fs)
NM_181507.2(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.2(HPS5):c.2077del (p.Arg693fs) rs746844529
NM_181507.2(HPS5):c.2561+1G>C
NM_181507.2(HPS5):c.2718-2A>G
NM_181507.2(HPS5):c.2837+1G>A
NM_181507.2(HPS5):c.340C>T (p.Gln114Ter)
NM_181507.2(HPS5):c.478-2A>G
NM_181507.2(HPS5):c.823dup (p.Arg275fs)
NM_181507.2(HPS5):c.986-1G>C

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