ClinVar Miner

List of variants studied for inherited thrombophilia by OMIM

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) rs6050 0.29452
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) rs5985 0.22002
NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) rs7080536 0.02322
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000506.5(F2):c.*97G>A rs1799963 0.00953
NC_000020.11:g.23049706C>T rs13306848 0.00891
NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr) rs41348347 0.00281
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00167
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His) rs5907 0.00156
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00110
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00084
NM_000361.3(THBD):c.-151G>T rs16984852 0.00025
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000312.4(PROC):c.226G>A (p.Val76Met) rs121918149 0.00008
NM_000130.5(F5):c.1001G>C (p.Arg334Thr) rs118203906 0.00007
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 0.00005
NM_000312.4(PROC):c.814C>T (p.Arg272Cys) rs121918154 0.00004
NM_000312.4(PROC):c.1015G>A (p.Val339Met) rs121918158 0.00002
NM_000312.4(PROC):c.925G>A (p.Ala309Thr) rs121918146 0.00002
NM_000185.4(SERPIND1):c.1385C>T (p.Pro462Leu) rs121912420 0.00001
NM_000312.4(PROC):c.1000G>A (p.Gly334Ser) rs121918150 0.00001
NM_000312.4(PROC):c.1335C>G (p.Ile445Met) rs121918157 0.00001
NM_000312.4(PROC):c.446A>C (p.His149Pro) rs121918159 0.00001
NM_000312.4(PROC):c.629C>T (p.Pro210Leu) rs121918145 0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) rs121918143 0.00001
NM_000312.4(PROC):c.658C>T (p.Arg220Trp) rs121918152 0.00001
NM_000312.4(PROC):c.659G>A (p.Arg220Gln) rs121918153 0.00001
NM_000312.4(PROC):c.678+9C>T rs1053253907 0.00001
NM_000312.4(PROC):c.902C>T (p.Ala301Val) rs121918144 0.00001
NM_000312.4(PROC):c.935C>T (p.Ser312Leu) rs121918160 0.00001
NM_000313.4(PROS1):c.586A>G (p.Lys196Glu) rs121918474 0.00001
NM_000361.3(THBD):c.1209G>T (p.Arg403Ser) rs398122807 0.00001
NM_000412.5(HRG):c.271C>T (p.Pro91Ser) rs761776963 0.00001
NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val) rs121909568 0.00001
NM_000488.4(SERPINC1):c.1273C>T (p.Arg425Cys) rs121909554 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp) rs121909571 0.00001
AT-III Barcelona
AT-III Fontainebleu
AT-III Roma
AT-III Trento
C223R
NC_000002.12:g.127418425T>C rs2104934553
NG_011403.2:g.2731_26150dup
NM_000130.5(F5):c.1160T>C (p.Ile387Thr) rs118203911
NM_000130.5(F5):c.439G>T (p.Glu147Ter) rs118203912
NM_000133.4(F9):c.1151G>T (p.Arg384Leu) rs137852283
NM_000185.4(SERPIND1):c.1429_1430del (p.Phe477fs) rs587777760
NM_000185.4(SERPIND1):c.321dup (p.Val108fs) rs587777759
NM_000312.4(PROC):c.1027G>A (p.Gly343Ser) rs121918147
NM_000312.4(PROC):c.1042C>T (p.Arg348Ter) rs121918141
NM_000312.4(PROC):c.1268del (p.Gly423fs) rs1688706133
NM_000312.4(PROC):c.1332G>C (p.Trp444Cys) rs121918142
NM_000312.4(PROC):c.185A>C (p.Glu62Ala) rs121918148
NM_000312.4(PROC):c.552_553insTT (p.Arg185fs) rs1558715857
NM_000312.4(PROC):c.678G>C (p.Gln226His) rs121918155
NM_000312.4(PROC):c.793C>T (p.Leu265Phe) rs121918156
NM_000312.4(PROC):c.866C>T (p.Pro289Leu) rs121918151
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys) rs387906674
NM_000313.4(PROS1):c.1324-9A>G rs2107137679
NM_000313.4(PROS1):c.1681C>G (p.Arg561Gly) rs121918476
NM_000313.4(PROS1):c.2031A>T (p.Ter677Tyr) rs267606981
NM_000313.4(PROS1):c.701A>G (p.Tyr234Cys) rs387906675
NM_000313.4(PROS1):c.773A>G (p.Asn258Ser) rs121918473
NM_000313.4(PROS1):c.835C>T (p.Gln279Ter) rs121918475
NM_000361.3(THBD):c.142G>A (p.Ala48Thr) rs2122673257
NM_000361.3(THBD):c.1688dup (p.Gln564fs) rs2515202194
NM_000412.5(HRG):c.308G>A (p.Gly103Glu) rs121918122
NM_000488.4(SERPINC1):c.1021_1024del (p.Asp341fs) rs121909561
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro) rs121909565
NM_000488.4(SERPINC1):c.116T>A (p.Ile39Asn) rs121909558
NM_000488.4(SERPINC1):c.1205del (p.Lys402fs) rs2102778876
NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr) rs121909557
NM_000488.4(SERPINC1):c.1246G>C (p.Ala416Pro) rs121909548
NM_000488.4(SERPINC1):c.1271G>A (p.Gly424Asp) rs121909566
NM_000488.4(SERPINC1):c.1273_1275del (p.Arg425del) rs2102773181
NM_000488.4(SERPINC1):c.1274G>A (p.Arg425His) rs121909549
NM_000488.4(SERPINC1):c.1274G>C (p.Arg425Pro) rs121909549
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu) rs121909550
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr) rs121909546
NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu) rs121909555
NM_000488.4(SERPINC1):c.1373_1381del (p.Val458_Pro461delinsAla) rs2102772927
NM_000488.4(SERPINC1):c.1382C>T (p.Pro461Leu) rs121909564
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys) rs28929469
NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser) rs121909547
NM_000488.4(SERPINC1):c.237dup (p.Val80fs) rs2102789885
NM_000488.4(SERPINC1):c.379T>C (p.Cys127Arg) rs121909573
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) rs121909569
NM_000488.4(SERPINC1):c.481C>T (p.Arg161Ter) rs121909562
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln) rs121909563
NM_000488.4(SERPINC1):c.500A>C (p.Asn167Thr) rs121909570
NM_000488.4(SERPINC1):c.667T>C (p.Ser223Pro) rs121909572
NM_000488.4(SERPINC1):c.68T>C (p.Leu23Pro) rs387906575
NM_000488.4(SERPINC1):c.719dup (p.Asn240fs) rs2102784614
NM_000488.4(SERPINC1):c.779dup (p.Phe261fs) rs1572088837
NM_000488.4(SERPINC1):c.830_831del (p.Glu277fs) rs1657694750
NM_000488.4(SERPINC1):c.830del (p.Glu277fs) rs1572088775
NM_000488.4(SERPINC1):c.967_968del (p.Ser323fs) rs121909560
NM_000506.5(F2):c.1787G>T (p.Arg596Leu) rs387907201
PROC, ARG12TRP
PROS1, 1-BP INS, 146A
PROS1, ARG410TER
PROS1, IVS10DS, G-A, +5

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