ClinVar Miner

List of variants reported as pathogenic for inherited thrombophilia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 227
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00084
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000312.4(PROC):c.889G>C (p.Asp297His) rs199469471 0.00013
NM_000312.4(PROC):c.541T>G (p.Phe181Val) rs199469470 0.00005
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 0.00005
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000312.4(PROC):c.814C>T (p.Arg272Cys) rs121918154 0.00004
NM_000313.4(PROS1):c.1681C>T (p.Arg561Trp) rs121918476 0.00003
NM_000313.4(PROS1):c.77-1G>C rs759677822 0.00003
NM_000133.4(F9):c.163T>A (p.Phe55Ile) rs759987427 0.00002
NM_000133.4(F9):c.301C>G (p.Pro101Ala) rs137852232 0.00002
NM_000312.4(PROC):c.1015G>A (p.Val339Met) rs121918158 0.00002
NM_000312.4(PROC):c.169C>T (p.Arg57Trp) rs757583846 0.00002
NM_000312.4(PROC):c.400+5G>C rs199469478 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_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000133.4(F9):c.-35G>A rs1166164399 0.00001
NM_000133.4(F9):c.1150C>T (p.Arg384Ter) rs137852261 0.00001
NM_000133.4(F9):c.1190C>T (p.Ala397Val) rs758194285 0.00001
NM_000133.4(F9):c.354G>A (p.Trp118Ter) rs1234002716 0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys) rs137852237 0.00001
NM_000133.4(F9):c.572G>A (p.Arg191His) rs137852238 0.00001
NM_000312.4(PROC):c.1000G>A (p.Gly334Ser) rs121918150 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.1201G>A (p.Asp401Asn) rs142742242 0.00001
NM_000312.4(PROC):c.1218G>A (p.Met406Ile) rs780456728 0.00001
NM_000312.4(PROC):c.400G>T (p.Glu134Ter) rs1257816310 0.00001
NM_000312.4(PROC):c.41G>A (p.Trp14Ter) rs758576042 0.00001
NM_000312.4(PROC):c.445dup (p.His149fs) rs772629538 0.00001
NM_000312.4(PROC):c.560G>A (p.Trp187Ter) rs897196091 0.00001
NM_000312.4(PROC):c.595C>T (p.Arg199Ter) rs1456533664 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.935C>T (p.Ser312Leu) rs121918160 0.00001
NM_000312.4(PROC):c.962C>T (p.Pro321Leu) rs1321566264 0.00001
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) rs5017717 0.00001
NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter) rs199469503 0.00001
NM_000313.4(PROS1):c.586A>G (p.Lys196Glu) rs121918474 0.00001
NM_000488.4(SERPINC1):c.1273C>T (p.Arg425Cys) rs121909554 0.00001
NM_000488.4(SERPINC1):c.1315C>A (p.Pro439Thr) rs1487411568 0.00001
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp) rs768704768 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.805G>A (p.Glu269Lys) rs758087836 0.00001
NC_000001.10:g.(?_173873027)_(173962123_?)del
NC_000001.10:g.(?_173880917)_(173886568_?)del
NC_000001.10:g.(?_173883671)_(173886568_?)del
NC_000001.11:g.(?_173903804)_(173917378_?)del
NC_000002.11:g.(?_127806102)_(129076137_?)del
NC_000002.11:g.(?_128175983)_(128184818_?)del
NC_000003.11:g.(?_93593089)_(93845334_?)del
NC_000003.11:g.(?_93595790)_(93596055_?)del
NC_000003.11:g.(?_93597987)_(93598178_?)del
NC_000003.11:g.(?_93605147)_(93617433_?)del
NC_000003.11:g.(?_93615400)_(93617433_?)del
NC_000003.11:g.(?_93629453)_(93692783_?)del
NC_000003.12:g.(?_93874239)_(94053268_?)del
NC_000003.12:g.(?_93879163)_(93879314_?)del
NC_000003.12:g.(?_93924230)_(93973939_?)del
NC_000023.10:g.(?_138612860)_(138613021_?)del
NC_000023.10:g.(?_138612860)_(139587225_?)del
NC_000023.10:g.(?_138633201)_(138633443_?)del
NC_000023.11:g.(?_139530701)_(139563439_?)del
NC_000023.11:g.(?_139530759)_(139562076_?)del
NC_000023.11:g.(?_139541049)_(139563439_?)del
NM_000133.4(F9):c.*1157A>G rs1317977313
NM_000133.4(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.4(F9):c.1058T>C (p.Val353Ala) rs137852255
NM_000133.4(F9):c.1062T>A (p.Ser354Arg) rs2148367882
NM_000133.4(F9):c.1067G>A (p.Trp356Ter) rs1479241411
NM_000133.4(F9):c.1094C>G (p.Ser365Ter) rs2520845719
NM_000133.4(F9):c.1108C>T (p.Gln370Ter) rs1928116697
NM_000133.4(F9):c.1135C>T (p.Arg379Ter) rs137852258
NM_000133.4(F9):c.1136G>A (p.Arg379Gln) rs137852259
NM_000133.4(F9):c.1144T>C (p.Cys382Arg) rs137852260
NM_000133.4(F9):c.1148T>A (p.Leu383His) rs1387119011
NM_000133.4(F9):c.1161del (p.Lys387fs) rs2520846572
NM_000133.4(F9):c.1182G>A (p.Met394Ile) rs1388797589
NM_000133.4(F9):c.1183T>A (p.Phe395Ile) rs1175050951
NM_000133.4(F9):c.1187G>A (p.Cys396Tyr) rs137852273
NM_000133.4(F9):c.1217C>G (p.Ser406Ter)
NM_000133.4(F9):c.1231A>G (p.Ser411Gly) rs137852277
NM_000133.4(F9):c.127C>T (p.Arg43Trp) rs1603264205
NM_000133.4(F9):c.128G>A (p.Arg43Gln) rs1275708479
NM_000133.4(F9):c.1293G>T (p.Trp431Cys) rs1371750567
NM_000133.4(F9):c.1294G>A (p.Gly432Ser) rs1170838100
NM_000133.4(F9):c.1328T>C (p.Ile443Thr) rs137852268
NM_000133.4(F9):c.1358G>A (p.Trp453Ter) rs2148368332
NM_000133.4(F9):c.141_151del (p.Tyr47_Lys51delinsTer)
NM_000133.4(F9):c.142A>G (p.Asn48Asp) rs1927493197
NM_000133.4(F9):c.148G>A (p.Gly50Ser) rs1556435940
NM_000133.4(F9):c.160G>A (p.Glu54Lys)
NM_000133.4(F9):c.191G>A (p.Cys64Tyr) rs1330779541
NM_000133.4(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228
NM_000133.4(F9):c.237_247del (p.Thr81fs) rs2148356221
NM_000133.4(F9):c.253-1G>C rs1434866164
NM_000133.4(F9):c.268C>T (p.Gln90Ter)
NM_000133.4(F9):c.278-3A>G rs398122990
NM_000133.4(F9):c.344A>G (p.Tyr115Cys) rs1603264727
NM_000133.4(F9):c.356G>A (p.Cys119Tyr) rs1349887620
NM_000133.4(F9):c.384T>A (p.Cys128Ter) rs780435919
NM_000133.4(F9):c.412A>C (p.Asn138His) rs2520790255
NM_000133.4(F9):c.423_424insAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGGCAGATGC (p.Glu142fs) rs2520790212
NM_000133.4(F9):c.478G>A (p.Gly160Arg) rs1927768022
NM_000133.4(F9):c.484C>A (p.Arg162=)
NM_000133.4(F9):c.484C>T (p.Arg162Ter) rs137852272
NM_000133.4(F9):c.499C>T (p.Gln167Ter) rs2148361240
NM_000133.4(F9):c.520+13A>G rs1603265507
NM_000133.4(F9):c.532T>C (p.Cys178Arg) rs2148362390
NM_000133.4(F9):c.545_546del (p.Ser182fs) rs1433656857
NM_000133.4(F9):c.659C>A (p.Ser220Ter) rs2520802842
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.723G>A (p.Gln241=) rs1182648920
NM_000133.4(F9):c.735del (p.Asn245fs)
NM_000133.4(F9):c.742del (p.Val248fs) rs2520839064
NM_000133.4(F9):c.755G>A (p.Cys252Tyr) rs267606792
NM_000133.4(F9):c.782G>A (p.Trp261Ter) rs2148367245
NM_000133.4(F9):c.82T>C (p.Cys28Arg) rs387906481
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000133.4(F9):c.838+1_838+16del rs2148367304
NM_000133.4(F9):c.839-1G>A rs1439169192
NM_000133.4(F9):c.839G>A (p.Gly280Asp) rs1275842849
NM_000133.4(F9):c.853G>T (p.Glu285Ter) rs2520842805
NM_000133.4(F9):c.88+2T>C rs2148353009
NM_000133.4(F9):c.880C>T (p.Arg294Ter) rs137852248
NM_000133.4(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000133.4(F9):c.881G>T (p.Arg294Leu) rs137852249
NM_000133.4(F9):c.88G>A (p.Val30Ile) rs1603263395
NM_000133.4(F9):c.892C>T (p.Arg298Ter) rs137852250
NM_000133.4(F9):c.944A>G (p.Asp315Gly) rs1928107434
NM_000133.4(F9):c.990C>A (p.Tyr330Ter) rs1928109999
NM_000312.4(PROC):c.1042C>T (p.Arg348Ter) rs121918141
NM_000312.4(PROC):c.1212dup (p.Pro405fs) rs1333329860
NM_000312.4(PROC):c.303C>A (p.Cys101Ter) rs764808999
NM_000312.4(PROC):c.326_330dup (p.Cys111fs) rs1688218776
NM_000312.4(PROC):c.400+1G>A rs1189377845
NM_000312.4(PROC):c.400+2T>A
NM_000312.4(PROC):c.400+5G>A
NM_000312.4(PROC):c.400+5G>T rs199469478
NM_000312.4(PROC):c.520C>T (p.Gln174Ter) rs1434042239
NM_000312.4(PROC):c.552_553insTT (p.Arg185fs) rs1558715857
NM_000312.4(PROC):c.561G>A (p.Trp187Ter) rs1558715877
NM_000312.4(PROC):c.632G>A (p.Arg211Gln) rs199469476
NM_000312.4(PROC):c.675G>A (p.Trp225Ter) rs757925208
NM_000312.4(PROC):c.698dup (p.Lys234fs) rs2468366132
NM_000312.4(PROC):c.6G>A (p.Trp2Ter) rs2468318751
NM_000312.4(PROC):c.907_908del (p.Leu303fs) rs2468376955
NM_000312.4(PROC):c.982C>T (p.Arg328Cys) rs201907715
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys) rs387906674
NM_000313.4(PROS1):c.1084C>T (p.Gln362Ter) rs1559931820
NM_000313.4(PROS1):c.1142dup (p.Leu382fs)
NM_000313.4(PROS1):c.1149G>A (p.Trp383Ter) rs1708453639
NM_000313.4(PROS1):c.1155+5G>A rs199469494
NM_000313.4(PROS1):c.1179_1180dup (p.Ser394fs) rs2472117896
NM_000313.4(PROS1):c.1185_1188dup (p.Ile397Ter) rs2472117875
NM_000313.4(PROS1):c.1204G>T (p.Glu402Ter) rs1553809314
NM_000313.4(PROS1):c.1253dup (p.Asn418fs) rs2472117699
NM_000313.4(PROS1):c.1424G>T (p.Cys475Phe) rs766692725
NM_000313.4(PROS1):c.1465G>T (p.Gly489Ter) rs762438750
NM_000313.4(PROS1):c.1518G>A (p.Trp506Ter) rs2472107297
NM_000313.4(PROS1):c.1726G>T (p.Glu576Ter) rs763898193
NM_000313.4(PROS1):c.181G>T (p.Glu61Ter) rs2107202868
NM_000313.4(PROS1):c.1871-1G>A rs2107120223
NM_000313.4(PROS1):c.1871-2A>G rs2107120227
NM_000313.4(PROS1):c.1919T>C (p.Met640Thr) rs1708152510
NM_000313.4(PROS1):c.194AAG[2] (p.Glu67del) rs1709033502
NM_000313.4(PROS1):c.1977del (p.Asn659fs) rs2472099808
NM_000313.4(PROS1):c.1991dup (p.His664fs) rs1553808038
NM_000313.4(PROS1):c.1998T>A (p.Cys666Ter) rs1559926604
NM_000313.4(PROS1):c.1A>C (p.Met1Leu) rs2107279275
NM_000313.4(PROS1):c.1A>G (p.Met1Val) rs2107279275
NM_000313.4(PROS1):c.232dup (p.Thr78fs)
NM_000313.4(PROS1):c.252del (p.Lys84fs) rs1241365457
NM_000313.4(PROS1):c.3G>C (p.Met1Ile) rs1403076049
NM_000313.4(PROS1):c.470-2A>T rs1708668246
NM_000313.4(PROS1):c.557G>A (p.Cys186Tyr) rs779391826
NM_000313.4(PROS1):c.581C>A (p.Ser194Ter) rs1708666412
NM_000313.4(PROS1):c.708del (p.Lys237fs) rs2472135703
NM_000313.4(PROS1):c.760C>T (p.Gln254Ter) rs2472132377
NM_000313.4(PROS1):c.77-2A>G rs2471793974
NM_000313.4(PROS1):c.793dup (p.Cys265fs) rs2107158205
NM_000313.4(PROS1):c.820A>T (p.Lys274Ter) rs1708536031
NM_000313.4(PROS1):c.835C>T (p.Gln279Ter) rs121918475
NM_000313.4(PROS1):c.83C>A (p.Ser28Ter)
NM_000313.4(PROS1):c.864C>A (p.Cys288Ter) rs554787241
NM_000313.4(PROS1):c.865del (p.Leu289fs)
NM_000313.4(PROS1):c.967delinsGG (p.Phe323fs) rs863224838
NM_000488.4(SERPINC1):c.1009C>T (p.Gln337Ter) rs2526570241
NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter) rs483352856
NM_000488.4(SERPINC1):c.1060del (p.Arg354fs) rs863224495
NM_000488.4(SERPINC1):c.1154-14G>A rs542881762
NM_000488.4(SERPINC1):c.1171C>T (p.Arg391Ter) rs2526559702
NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter) rs2102778910
NM_000488.4(SERPINC1):c.1207del (p.Ala403fs) rs2526559464
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.1274G>A (p.Arg425His) rs121909549
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr) rs121909546
NM_000488.4(SERPINC1):c.1311C>G (p.Asn437Lys) rs1301351856
NM_000488.4(SERPINC1):c.1322T>C (p.Leu441Pro)
NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg) rs2526542281
NM_000488.4(SERPINC1):c.205G>T (p.Glu69Ter) rs2526595697
NM_000488.4(SERPINC1):c.243G>A (p.Trp81Ter) rs2526595268
NM_000488.4(SERPINC1):c.28dup (p.Thr10fs) rs2526612854
NM_000488.4(SERPINC1):c.341G>A (p.Ser114Asn) rs1657909645
NM_000488.4(SERPINC1):c.374G>A (p.Gly125Asp) rs2526594003
NM_000488.4(SERPINC1):c.381T>A (p.Cys127Ter) rs2102789590
NM_000488.4(SERPINC1):c.409-1G>C rs2526582621
NM_000488.4(SERPINC1):c.409-1G>T rs2526582621
NM_000488.4(SERPINC1):c.415_420del (p.Lys139_Phe140del) rs1572090368
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) rs121909569
NM_000488.4(SERPINC1):c.448dup (p.Gln150fs) rs1572090305
NM_000488.4(SERPINC1):c.456CTT[2] (p.Phe155del) rs786204063
NM_000488.4(SERPINC1):c.481C>T (p.Arg161Ter) rs121909562
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter) rs199469504
NM_000488.4(SERPINC1):c.562G>T (p.Glu188Ter)
NM_000488.4(SERPINC1):c.607C>T (p.Gln203Ter) rs2102785788
NM_000488.4(SERPINC1):c.763-1G>C
NM_000488.4(SERPINC1):c.766del (p.Leu256fs) rs1572088865
NM_000488.4(SERPINC1):c.830_831del (p.Glu277fs) rs1657694750
NM_000488.4(SERPINC1):c.98dup (p.His33fs) rs2526596951

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