ClinVar Miner

List of variants reported as likely benign 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: 241
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_000552.5(VWF):c.3379+13G>A rs2885752 0.01966
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_000892.5(KLKB1):c.1072A>G (p.Thr358Ala) rs4253379 0.01167
NM_000892.5(KLKB1):c.519A>G (p.Gly173=) rs4253350 0.01158
NM_000133.4(F9):c.278-27A>G rs3134809 0.01152
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) rs41314453 0.01000
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys) rs61737523 0.00809
NM_000301.5(PLG):c.1567C>T (p.Arg523Trp) rs4252129 0.00772
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_000204.5(CFI):c.1206C>T (p.Pro402=) rs115780371 0.00646
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_000505.4(F12):c.398-12C>T rs56285942 0.00495
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met) rs141932927 0.00458
NM_000064.4(C3):c.3958C>A (p.Arg1320=) rs141718696 0.00386
NM_000301.5(PLG):c.1281G>A (p.Arg427=) rs149909079 0.00373
NM_172351.3(CD46):c.796G>A (p.Asp266Asn) rs17006830 0.00369
NM_139027.6(ADAMTS13):c.1786+16G>A rs36220948 0.00349
NM_139027.6(ADAMTS13):c.1705+14C>T rs191816433 0.00342
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_001261826.3(AP3D1):c.463-4G>A rs192634153 0.00324
NC_000005.10:g.177409584C>G rs41309132 0.00297
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_000133.4(F9):c.967G>A (p.Glu323Lys) rs150351950 0.00294
NM_000130.5(F5):c.4923C>T (p.Leu1641=) rs116809837 0.00272
NM_005141.5(FGB):c.682A>G (p.Thr228Ala) rs149599496 0.00272
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg) rs6679078 0.00271
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_172351.3(CD46):c.926C>T (p.Pro309Leu) rs41317833 0.00241
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657 0.00237
NM_139027.6(ADAMTS13):c.1705+7G>A rs78739717 0.00233
NM_139027.6(ADAMTS13):c.3400+45C>T rs141494468 0.00225
NM_000505.4(F12):c.-62C>T rs187018744 0.00223
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_000130.5(F5):c.3162A>C (p.Glu1054Asp) rs149026031 0.00216
NM_000064.4(C3):c.1686+20G>A rs76024222 0.00212
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln) rs116143727 0.00193
NM_000064.4(C3):c.2245+15G>A rs11569434 0.00192
NM_000204.5(CFI):c.1443C>T (p.Val481=) rs114091883 0.00190
NM_000064.4(C3):c.2685C>T (p.Ser895=) rs138884408 0.00189
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val) rs142617551 0.00183
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) rs200584437 0.00183
NM_004132.5(HABP2):c.364C>T (p.Arg122Trp) rs78201625 0.00179
NM_019616.4(F7):c.64+4C>T rs187128791 0.00178
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_021871.4(FGA):c.780G>A (p.Glu260=) rs145563362 0.00167
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_000301.5(PLG):c.1962G>T (p.Val654=) rs4252196 0.00147
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val) rs139520520 0.00112
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_000552.5(VWF):c.2739A>C (p.Gly913=) rs35191786 0.00102
NM_000064.4(C3):c.1344C>T (p.Thr448=) rs150934856 0.00086
NM_000064.4(C3):c.4172+19G>A rs181489450 0.00086
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_004132.5(HABP2):c.947G>A (p.Gly316Glu) rs138864377 0.00076
NM_000064.4(C3):c.876+19G>A rs11569574 0.00068
NM_000064.4(C3):c.2190C>T (p.Tyr730=) rs142455019 0.00055
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_000064.4(C3):c.1449C>T (p.His483=) rs140133060 0.00044
NM_000133.4(F9):c.907C>T (p.His303Tyr) rs1801202 0.00044
NM_139027.6(ADAMTS13):c.1290C>T (p.Ala430=) rs138401488 0.00043
NM_000133.4(F9):c.8G>A (p.Arg3His) rs148060786 0.00042
NM_000064.4(C3):c.1452G>A (p.Glu484=) rs146594928 0.00041
NM_000064.4(C3):c.1731T>C (p.Pro577=) rs148182019 0.00041
NM_000186.4(CFH):c.2821G>T (p.Val941Phe) rs529491401 0.00039
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_000204.5(CFI):c.319A>G (p.Thr107Ala) rs201419000 0.00036
NM_000361.3(THBD):c.1208G>A (p.Arg403Lys) rs41400249 0.00036
NM_003664.5(AP3B1):c.279+16A>G rs199804239 0.00035
NM_000204.5(CFI):c.429C>T (p.Ser143=) rs112492491 0.00034
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu) rs373524969 0.00031
NM_000488.4(SERPINC1):c.1005G>A (p.Val335=) rs192187532 0.00031
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe) rs184635235 0.00031
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 0.00029
NM_000377.3(WAS):c.1110A>C (p.Pro370=) rs782244198 0.00028
NM_000064.4(C3):c.3855C>T (p.Asp1285=) rs142359391 0.00027
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635 0.00026
NM_000064.4(C3):c.4791G>A (p.Glu1597=) rs149675330 0.00021
NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile) rs140639242 0.00021
NM_000195.5(HPS1):c.118-19T>A rs758750874 0.00020
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_024420.3(PLA2G4A):c.1962T>G (p.Gly654=) rs12720691 0.00020
NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His) rs151048660 0.00020
NM_000064.4(C3):c.1650C>T (p.Ser550=) rs138835619 0.00019
NM_000064.4(C3):c.1923C>T (p.Asp641=) rs113044084 0.00019
NM_000064.4(C3):c.2354+19C>T rs192942944 0.00019
NM_000204.5(CFI):c.1430-19G>A rs377117137 0.00019
NM_000377.3(WAS):c.1191G>A (p.Pro397=) rs782486251 0.00019
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu) rs782307200 0.00019
NM_139027.6(ADAMTS13):c.2009G>A (p.Arg670His) rs149953167 0.00019
NM_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_000312.4(PROC):c.1212G>A (p.Gly404=) rs370637632 0.00016
NM_032122.5(DTNBP1):c.512-16T>C rs112527545 0.00016
NM_000204.5(CFI):c.1581C>T (p.Gly527=) rs181378677 0.00015
NM_000064.4(C3):c.1722G>A (p.Gln574=) rs140143815 0.00014
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_000301.5(PLG):c.36A>G (p.Leu12=) rs371469289 0.00014
NM_000195.5(HPS1):c.1409C>T (p.Ala470Val) rs768146409 0.00012
NM_000064.4(C3):c.1480-10G>A rs200390075 0.00011
NM_000064.4(C3):c.2047+7G>A rs770932217 0.00011
NM_000064.4(C3):c.2991G>A (p.Ala997=) rs150763358 0.00011
NM_000064.4(C3):c.420C>A (p.Thr140=) rs182399298 0.00011
NM_000312.4(PROC):c.927C>T (p.Ala309=) rs200731614 0.00011
NM_000195.5(HPS1):c.507+15C>T rs374761960 0.00010
NM_000204.5(CFI):c.705T>C (p.Ile235=) rs373891906 0.00010
NM_000301.5(PLG):c.1468C>A (p.Arg490=) rs367707054 0.00010
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_000064.4(C3):c.216G>A (p.Glu72=) rs375940408 0.00009
NM_000064.4(C3):c.987C>T (p.Thr329=) rs748313429 0.00009
NM_000186.4(CFH):c.3045T>C (p.Thr1015=) rs147864267 0.00009
NM_000186.4(CFH):c.3318A>G (p.Thr1106=) rs1137971 0.00009
NM_000301.5(PLG):c.2087G>A (p.Arg696Gln) rs147930532 0.00009
NM_172351.3(CD46):c.261A>G (p.Leu87=) rs115385712 0.00008
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_000064.4(C3):c.2441-7C>T rs372528487 0.00006
NM_000064.4(C3):c.3018C>T (p.Thr1006=) rs141373588 0.00006
NM_000064.4(C3):c.3858C>T (p.Ala1286=) rs751808949 0.00006
NM_000186.4(CFH):c.2056+16T>C rs777352172 0.00006
NM_000186.4(CFH):c.245-17T>A rs775088366 0.00006
NM_000204.5(CFI):c.482+7G>A rs765922749 0.00006
NM_000301.5(PLG):c.1722G>A (p.Pro574=) rs146030266 0.00006
NM_000377.3(WAS):c.273+14C>T rs782249573 0.00006
NM_021871.4(FGA):c.1444G>A (p.Val482Met) rs139146037 0.00006
NM_032122.5(DTNBP1):c.355+10A>G rs368923800 0.00006
NM_000064.4(C3):c.1854C>T (p.Asp618=) rs570503574 0.00005
NM_000186.4(CFH):c.59-16T>C rs201067374 0.00005
NM_000195.5(HPS1):c.1860G>A (p.Gly620=) rs376722018 0.00005
NM_000195.5(HPS1):c.909A>G (p.Pro303=) rs139169204 0.00005
NM_000204.5(CFI):c.1044+8C>T rs190420174 0.00005
NM_000204.5(CFI):c.729T>A (p.Gly243=) rs749140698 0.00005
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr) rs201657175 0.00005
NM_001710.6(CFB):c.1778+8C>T rs148298609 0.00005
NM_000186.4(CFH):c.2236+18A>G rs749643506 0.00004
NM_000186.4(CFH):c.2957-15T>C rs756514818 0.00004
NM_000186.4(CFH):c.807T>C (p.Asn269=) rs757654697 0.00004
NM_000186.4(CFH):c.964+18C>A rs1258420173 0.00004
NM_000195.5(HPS1):c.1164C>T (p.Ser388=) rs747305546 0.00004
NM_000195.5(HPS1):c.1341C>G (p.Thr447=) rs990213443 0.00004
NM_000195.5(HPS1):c.1532+14G>A rs761708348 0.00004
NM_000195.5(HPS1):c.1977C>T (p.Thr659=) rs751349303 0.00004
NM_000204.5(CFI):c.603A>C (p.Arg201Ser) rs145769028 0.00004
NM_000361.3(THBD):c.277C>A (p.Pro93Thr) rs754342536 0.00004
NM_001754.5(RUNX1):c.1338C>T (p.Leu446=) rs769628054 0.00004
NM_000064.4(C3):c.3702C>T (p.Ser1234=) rs754607975 0.00003
NM_000064.4(C3):c.4350+7C>A rs148695501 0.00003
NM_000064.4(C3):c.4457-13C>T rs375382978 0.00003
NM_000064.4(C3):c.4546+18G>A rs377076572 0.00003
NM_000128.4(F11):c.1683C>T (p.Ala561=) rs770473069 0.00003
NM_000186.4(CFH):c.2868G>A (p.Thr956=) rs533238588 0.00003
NM_000195.5(HPS1):c.1533-6C>T rs751468611 0.00003
NM_000204.5(CFI):c.1429+8T>C rs184313022 0.00003
NM_000377.3(WAS):c.339C>T (p.Phe113=) rs782233413 0.00003
NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His) rs377753373 0.00003
NM_000552.5(VWF):c.3747T>C (p.Asp1249=) rs200893595 0.00003
NM_000064.4(C3):c.1479+13C>G rs368352750 0.00002
NM_000064.4(C3):c.3015G>T (p.Val1005=) rs1340489185 0.00002
NM_000064.4(C3):c.3647-13A>G rs760807491 0.00002
NM_000186.4(CFH):c.906C>G (p.Thr302=) rs148552495 0.00002
NM_000204.5(CFI):c.1378C>T (p.Leu460=) rs1026187949 0.00002
NM_000204.5(CFI):c.546A>G (p.Leu182=) rs992376160 0.00002
NM_000377.3(WAS):c.420C>T (p.Leu140=) rs782639067 0.00002
NM_000064.4(C3):c.1047G>C (p.Val349=) rs747191565 0.00001
NM_000064.4(C3):c.1491G>A (p.Lys497=) rs768360920 0.00001
NM_000064.4(C3):c.2118G>A (p.Ser706=) rs755973774 0.00001
NM_000064.4(C3):c.2583+13G>A rs774609150 0.00001
NM_000064.4(C3):c.3489+18T>C rs747517809 0.00001
NM_000064.4(C3):c.3546C>T (p.Asn1182=) rs189353964 0.00001
NM_000064.4(C3):c.4155C>T (p.Ile1385=) rs563352895 0.00001
NM_000064.4(C3):c.4631-6C>T rs775109096 0.00001
NM_000064.4(C3):c.4665C>G (p.Ser1555=) rs542668902 0.00001
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys) rs538359973 0.00001
NM_000186.4(CFH):c.2236+10C>G rs755790229 0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000186.4(CFH):c.849A>G (p.Lys283=) rs771886590 0.00001
NM_000195.5(HPS1):c.1245C>T (p.Pro415=) rs879797527 0.00001
NM_000195.5(HPS1):c.1383C>T (p.Pro461=) rs763241171 0.00001
NM_000195.5(HPS1):c.1398-9C>T rs773047618 0.00001
NM_000195.5(HPS1):c.1532+13C>T rs202086569 0.00001
NM_000195.5(HPS1):c.1533-16G>A rs763995634 0.00001
NM_000195.5(HPS1):c.1545G>A (p.Thr515=) rs141596696 0.00001
NM_000195.5(HPS1):c.1598+11G>A rs538837544 0.00001
NM_000195.5(HPS1):c.399-5C>T rs765780669 0.00001
NM_000195.5(HPS1):c.498C>T (p.Phe166=) rs375340317 0.00001
NM_000195.5(HPS1):c.507+14G>A rs367821874 0.00001
NM_000195.5(HPS1):c.570C>T (p.His190=) rs1028581867 0.00001
NM_000195.5(HPS1):c.867+11T>C rs745977366 0.00001
NM_000204.5(CFI):c.12T>A (p.Leu4=) rs777304665 0.00001
NM_000204.5(CFI):c.1656A>G (p.Lys552=) rs1308386684 0.00001
NM_000204.5(CFI):c.540A>G (p.Glu180=) rs759777516 0.00001
NM_000361.3(THBD):c.1517C>A (p.Thr506Asn) rs572623850 0.00001
NM_000377.3(WAS):c.867T>C (p.Leu289=) rs781855402 0.00001
NM_000377.3(WAS):c.897G>A (p.Gly299=) rs782793103 0.00001
NM_001261826.3(AP3D1):c.2832G>A (p.Glu944=) rs767889885 0.00001
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=) rs1428673436 0.00001
NM_021871.4(FGA):c.1560C>T (p.Phe520=) rs778304190 0.00001
NM_032122.5(DTNBP1):c.324C>T (p.Ile108=) rs367543105 0.00001
NM_032383.5(HPS3):c.2967T>C (p.Phe989=) rs1170514296 0.00001
NM_139027.6(ADAMTS13):c.231C>T (p.Gly77=) rs367627378 0.00001
NM_000064.4(C3):c.1920C>T (p.Ser640=) rs139693406
NM_000064.4(C3):c.4547-16C>G rs1414347444
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.683-4C>G rs377240996
NM_000064.4(C3):c.975C>T (p.Tyr325=) rs1301665029
NM_000186.4(CFH):c.1735G>A (p.Val579Ile)
NM_000186.4(CFH):c.1935G>A (p.Thr645=) rs56035657
NM_000186.4(CFH):c.245-9del rs35507625
NM_000186.4(CFH):c.245-9dup rs35507625
NM_000186.4(CFH):c.318T>C (p.Tyr106=) rs1448752091
NM_000186.4(CFH):c.350+15C>T rs190197472
NM_000195.5(HPS1):c.1239G>A (p.Pro413=) rs777125097
NM_000195.5(HPS1):c.1533-17C>T rs187227619
NM_000195.5(HPS1):c.1633A>G (p.Ile545Val)
NM_000195.5(HPS1):c.198G>C (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val) rs1554892764
NM_000204.5(CFI):c.192G>C (p.Pro64=) rs571265769
NM_000204.5(CFI):c.329-14dup rs754551276
NM_000377.3(WAS):c.470G>A (p.Arg157His) rs369850591
NM_000377.3(WAS):c.498C>G (p.Ala166=) rs2147264155
NM_000377.3(WAS):c.560-5dup rs782563873
NM_000377.3(WAS):c.886G>A (p.Asp296Asn)
NM_000419.5(ITGA2B):c.891+12del rs373578804
NM_001754.5(RUNX1):c.1272G>C (p.Ser424=) rs1459260782
NM_003664.5(AP3B1):c.705T>C (p.Asp235=) rs779084730
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe) rs73073594
NM_139027.6(ADAMTS13):c.1309-20C>G rs2130845090
NM_139027.6(ADAMTS13):c.2254G>A (p.Gly752Ser)
NM_139027.6(ADAMTS13):c.3400G>A (p.Gly1134Ser)
NM_172351.3(CD46):c.286+27del rs371729129

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.