ClinVar Miner

List of variants studied for inherited thrombophilia by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000506.5(F2):c.*97G>A rs1799963 0.00953
NM_000313.4(PROS1):c.234+72T>C rs115491294 0.00885
NM_000361.3(THBD):c.1504G>C (p.Gly502Arg) rs76135678 0.00624
NM_000312.4(PROC):c.399C>T (p.Arg133=) rs200045749 0.00394
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_000412.5(HRG):c.125G>A (p.Arg42Gln) rs114895145 0.00315
NM_000313.4(PROS1):c.227C>T (p.Pro76Leu) rs73846070 0.00238
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu) rs1800579 0.00193
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00167
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00110
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00109
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00084
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser) rs141977229 0.00076
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser) rs1800578 0.00057
NM_000312.4(PROC):c.263-4G>A rs373494631 0.00022
NM_000412.5(HRG):c.72C>A (p.Cys24Ter) rs148593044 0.00019
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000312.4(PROC):c.703A>C (p.Lys235Gln) rs370086431 0.00015
NM_000361.3(THBD):c.1523C>T (p.Pro508Leu) rs201936427 0.00009
NM_000130.5(F5):c.244A>G (p.Ile82Val) rs377674263 0.00005
NM_000313.4(PROS1):c.1707C>T (p.Ser569=) rs566166669 0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 0.00005
NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro) rs372820797 0.00005
NM_000312.4(PROC):c.814C>T (p.Arg272Cys) rs121918154 0.00004
NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu) rs565091601 0.00004
NM_000312.4(PROC):c.1222G>A (p.Ala408Thr) rs374259918 0.00003
NM_000312.4(PROC):c.638T>C (p.Ile213Thr) rs753097748 0.00003
NM_000506.5(F2):c.1298+19G>A rs753976233 0.00003
NM_000130.5(F5):c.1777G>T (p.Val593Leu) rs1051217891 0.00002
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 0.00002
NM_000312.4(PROC):c.925G>A (p.Ala309Thr) rs121918146 0.00002
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_000361.3(THBD):c.844G>C (p.Ala282Pro) rs771123665 0.00002
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp) rs1384690038 0.00001
NM_000185.4(SERPIND1):c.161T>G (p.Leu54Arg) rs563129167 0.00001
NM_000312.4(PROC):c.1019C>T (p.Thr340Met) rs766261022 0.00001
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) rs1211098698 0.00001
NM_000312.4(PROC):c.125G>A (p.Arg42His) rs369504169 0.00001
NM_000312.4(PROC):c.1333A>C (p.Ile445Leu) rs200012319 0.00001
NM_000312.4(PROC):c.340G>C (p.Gly114Arg) rs374476971 0.00001
NM_000312.4(PROC):c.41G>A (p.Trp14Ter) rs758576042 0.00001
NM_000312.4(PROC):c.440G>A (p.Cys147Tyr) rs1247269491 0.00001
NM_000312.4(PROC):c.678+9C>T rs1053253907 0.00001
NM_000312.4(PROC):c.759C>A (p.His253Gln) rs1458669732 0.00001
NM_000313.4(PROS1):c.1544G>A (p.Arg515His) rs769700380 0.00001
NM_000313.4(PROS1):c.1594A>G (p.Thr532Ala) rs371028997 0.00001
NM_000313.4(PROS1):c.988C>T (p.Arg330Trp) rs536077692 0.00001
NM_000412.5(HRG):c.736C>A (p.Pro246Thr) rs780950869 0.00001
NM_000412.5(HRG):c.946C>T (p.Pro316Ser) rs903824710 0.00001
NM_000488.4(SERPINC1):c.382A>T (p.Asn128Tyr) rs1657908048 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter) rs1657743081 0.00001
NM_000488.4(SERPINC1):c.875A>T (p.Tyr292Phe) rs759821949 0.00001
NM_000129.4(F13A1):c.1860_1861delinsCT (p.Ala621Ser) rs2480517458
NM_000130.5(F5):c.6025G>T (p.Gly2009Trp) rs2526347206
NM_000185.4(SERPIND1):c.231C>A (p.Asp77Glu) rs5903
NM_000185.4(SERPIND1):c.488G>C (p.Gly163Ala) rs1188993674
NM_000312.4(PROC):c.1048A>G (p.Lys350Glu) rs1191848415
NM_000312.4(PROC):c.1084T>A (p.Phe362Ile) rs2104983099
NM_000312.4(PROC):c.1163C>T (p.Ala388Val) rs769277939
NM_000312.4(PROC):c.1240T>C (p.Trp414Arg) rs2468379693
NM_000312.4(PROC):c.338_346del (p.Asp113_Ile115del) rs2468336862
NM_000312.4(PROC):c.352T>C (p.Phe118Leu) rs1553424043
NM_000312.4(PROC):c.472C>T (p.Arg158Trp) rs2104954798
NM_000312.4(PROC):c.497A>G (p.Tyr166Cys) rs2468340110
NM_000312.4(PROC):c.508G>T (p.Asp170Tyr) rs2104954946
NM_000312.4(PROC):c.547T>C (p.Cys183Arg) rs748920874
NM_000312.4(PROC):c.659G>C (p.Arg220Pro) rs121918153
NM_000312.4(PROC):c.70+12C>T rs1687993255
NM_000312.4(PROC):c.752C>A (p.Ala251Glu) rs568121876
NM_000312.4(PROC):c.793C>T (p.Leu265Phe) rs121918156
NM_000312.4(PROC):c.848AGG[1] (p.Glu284del) rs752654447
NM_000313.4(PROS1):c.1055T>G (p.Ile352Ser) rs1708455723
NM_000313.4(PROS1):c.1088T>C (p.Leu363Pro) rs2107150027
NM_000313.4(PROS1):c.1337T>C (p.Leu446Pro) rs2107137626
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000313.4(PROS1):c.1501T>G (p.Ser501Ala) rs121918472
NM_000313.4(PROS1):c.1862G>T (p.Gly621Val) rs2107124949
NM_000313.4(PROS1):c.1916G>T (p.Cys639Phe) rs1576170616
NM_000313.4(PROS1):c.346+1G>T rs2472148801
NM_000313.4(PROS1):c.49dup (p.Leu17fs) rs1575904540
NM_000313.4(PROS1):c.905T>G (p.Leu302Trp) rs2472129812
NM_000361.3(THBD):c.1351T>A (p.Cys451Ser) rs776495714
NM_000412.5(HRG):c.745C>T (p.His249Tyr) rs2108584875
NM_000488.4(SERPINC1):c.1165G>A (p.Glu389Lys) rs2526559731
NM_000488.4(SERPINC1):c.365C>A (p.Thr122Asn) rs1253864431
NM_000488.4(SERPINC1):c.409-12del rs201656611
NM_000488.4(SERPINC1):c.473T>C (p.Leu158Pro) rs2102786101
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln) rs121909563
NM_000488.4(SERPINC1):c.547T>C (p.Ser183Pro) rs2102785961
NM_000488.4(SERPINC1):c.550del (p.Thr185fs) rs1572090173
NM_000488.4(SERPINC1):c.790G>C (p.Glu264Gln) rs2526572295
NM_000488.4(SERPINC1):c.851T>G (p.Met284Arg) rs1572088737
NM_000488.4(SERPINC1):c.951G>T (p.Leu317Phe) rs1468108124
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu) rs1460568494
NM_000506.5(F2):c.1598G>A (p.Arg533Gln) rs1361766713
NM_000506.5(F2):c.1621C>T (p.Arg541Trp) rs886048338

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