ClinVar Miner

List of variants reported as pathogenic for blood coagulation disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (155):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 542
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
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_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) rs76811038 0.00006
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_000130.5(F5):c.2862del (p.Ser955fs) rs765982916 0.00004
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_000419.5(ITGA2B):c.2602-3C>G rs763330792 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.925G>A (p.Ala309Thr) rs121918146 0.00002
NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys) rs387906674 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_000130.5(F5):c.1600C>T (p.Arg534Ter) rs770011773 0.00001
NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys) rs118203907 0.00001
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.224G>A (p.Arg75Gln) rs137852228 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.400+5G>C rs199469478 0.00001
NM_000312.4(PROC):c.400G>T (p.Glu134Ter) rs1257816310 0.00001
NM_000312.4(PROC):c.445dup (p.His149fs) rs772629538 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.659G>A (p.Arg220Gln) rs121918153 0.00001
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 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.1680T>A (p.Tyr560Ter) rs199469503 0.00001
NM_000313.4(PROS1):c.586A>G (p.Lys196Glu) rs121918474 0.00001
NM_000377.3(WAS):c.223G>A (p.Val75Met) rs782290433 0.00001
NM_000419.5(ITGA2B):c.1752+2T>C rs769156315 0.00001
NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter) rs79657230 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
NM_001754.5(RUNX1):c.496C>T (p.Arg166Ter) rs759068561 0.00001
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762 0.00001
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482 0.00001
NM_012388.4(BLOC1S6):c.335dup (p.His112fs) rs762974622 0.00001
NC_000001.10:g.(?_169497133)_(169497352_?)del
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_000005.10:g.(?_78089373)_(78141339_?)del
NC_000005.9:g.(?_76115008)_(78281071_?)del
NC_000005.9:g.(?_77590256)_(77590403_?)del
NC_000015.10:g.45592135del
NC_000015.9:g.(?_45884313)_(45898712_?)del
NC_000017.10:g.(?_42454357)_(42456098_?)del
NC_000017.11:g.44385077del
NC_000021.8:g.(?_36079578)_(37133458_?)del
NC_000021.8:g.(?_36164426)_(36171765_?)del
NC_000021.8:g.(?_36164426)_(36421202_?)del
NC_000021.8:g.(?_36164432)_(37834775_?)del
NC_000021.8:g.(?_36182049)_(36231885_?)del
NC_000021.8:g.(?_36231761)_(36231885_?)del
NC_000021.8:g.(?_36231761)_(36253020_?)del
NC_000021.8:g.(?_36252834)_(36421595_?)del
NC_000021.8:g.(?_36421133)_(36421202_?)del
NC_000021.8:g.35742772-?_36421202+?del
NC_000021.9:g.(?_34787801)_(34799462_?)del
NC_000021.9:g.(?_34787801)_(35048958_?)del
NC_000021.9:g.(?_34792125)_(34892973_?)del
NC_000021.9:g.(?_34799291)_(35049298_?)del
NC_000021.9:g.(?_34880547)_(34880723_?)del
NC_000021.9:g.(?_35048832)_(35049298_?)del
NC_000021.9:g.(?_35048836)_(35048905_?)del
NC_000023.10:g.(?_138612860)_(138613021_?)del
NC_000023.10:g.(?_138612860)_(139587225_?)del
NC_000023.10:g.(?_138633201)_(138633443_?)del
NC_000023.10:g.(?_46618120)_(48549553_?)del
NC_000023.10:g.(?_48542233)_(48542384_?)del
NC_000023.11:g.(?_139530701)_(139563439_?)del
NC_000023.11:g.(?_139530759)_(139562076_?)del
NC_000023.11:g.(?_139541049)_(139563439_?)del
NM_000130.5(F5):c.1258G>T (p.Gly420Cys)
NM_000130.5(F5):c.1345G>T (p.Gly449Ter)
NM_000130.5(F5):c.1356_1363del (p.Phe452fs)
NM_000130.5(F5):c.155C>G (p.Ser52Ter)
NM_000130.5(F5):c.1609C>T (p.Gln537Ter)
NM_000130.5(F5):c.2021del (p.Lys674fs)
NM_000130.5(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.5(F5):c.2228C>A (p.Ser743Ter)
NM_000130.5(F5):c.2521del (p.Gln841fs)
NM_000130.5(F5):c.2539del (p.Ile847fs) rs1571575520
NM_000130.5(F5):c.2743_2744del (p.Thr915fs)
NM_000130.5(F5):c.2780del (p.Pro927fs)
NM_000130.5(F5):c.286G>C (p.Asp96His)
NM_000130.5(F5):c.2946G>A (p.Trp982Ter)
NM_000130.5(F5):c.3012del (p.Arg1005fs)
NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)
NM_000130.5(F5):c.3322del (p.Thr1108fs)
NM_000130.5(F5):c.3532G>T (p.Glu1178Ter)
NM_000130.5(F5):c.357C>G (p.Tyr119Ter)
NM_000130.5(F5):c.3646G>T (p.Glu1216Ter)
NM_000130.5(F5):c.3799del (p.Leu1267fs)
NM_000130.5(F5):c.3910_3913del (p.Ser1304fs)
NM_000130.5(F5):c.4083dup (p.Ser1362fs)
NM_000130.5(F5):c.4205_4209dup (p.Pro1404fs)
NM_000130.5(F5):c.4317_4318del (p.Pro1440fs)
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
NM_000130.5(F5):c.4465C>T (p.Gln1489Ter)
NM_000130.5(F5):c.4705_4706delinsTA (p.Ala1569Ter)
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
NM_000130.5(F5):c.4876del (p.Ser1626fs)
NM_000130.5(F5):c.4900C>T (p.Arg1634Ter)
NM_000130.5(F5):c.5037dup (p.Ser1680fs) rs754982088
NM_000130.5(F5):c.5086G>T (p.Glu1696Ter)
NM_000130.5(F5):c.5143C>T (p.Arg1715Ter)
NM_000130.5(F5):c.5261del (p.Gly1754fs)
NM_000130.5(F5):c.5403dup (p.Ser1802fs) rs757917115
NM_000130.5(F5):c.5453del (p.Leu1818fs)
NM_000130.5(F5):c.5645G>A (p.Trp1882Ter)
NM_000130.5(F5):c.5793C>G (p.Tyr1931Ter)
NM_000130.5(F5):c.597_598del (p.Glu200fs)
NM_000130.5(F5):c.653T>C (p.Phe218Ser)
NM_000130.5(F5):c.987C>A (p.Cys329Ter)
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)
NM_000133.4(F9):c.1094C>G (p.Ser365Ter)
NM_000133.4(F9):c.1108C>T (p.Gln370Ter)
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)
NM_000133.4(F9):c.1161del (p.Lys387fs)
NM_000133.4(F9):c.1182G>A (p.Met394Ile)
NM_000133.4(F9):c.1183T>A (p.Phe395Ile) rs1175050951
NM_000133.4(F9):c.1187G>A (p.Cys396Tyr)
NM_000133.4(F9):c.1190C>T (p.Ala397Val)
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)
NM_000133.4(F9):c.1294G>A (p.Gly432Ser)
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)
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.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)
NM_000133.4(F9):c.384T>A (p.Cys128Ter) rs780435919
NM_000133.4(F9):c.412A>C (p.Asn138His)
NM_000133.4(F9):c.423_424insAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATGGCAGATGC (p.Glu142fs)
NM_000133.4(F9):c.478G>A (p.Gly160Arg)
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)
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.723G>A (p.Gln241=)
NM_000133.4(F9):c.735del (p.Asn245fs)
NM_000133.4(F9):c.742del (p.Val248fs)
NM_000133.4(F9):c.755G>A (p.Cys252Tyr)
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)
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)
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)
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
NM_000312.4(PROC):c.41G>A (p.Trp14Ter) rs758576042
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.560G>A (p.Trp187Ter)
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.658C>T (p.Arg220Trp) rs121918152
NM_000312.4(PROC):c.675G>A (p.Trp225Ter) rs757925208
NM_000312.4(PROC):c.698dup (p.Lys234fs)
NM_000312.4(PROC):c.6G>A (p.Trp2Ter)
NM_000312.4(PROC):c.907_908del (p.Leu303fs)
NM_000312.4(PROC):c.982C>T (p.Arg328Cys) rs201907715
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)
NM_000313.4(PROS1):c.1185_1188dup (p.Ile397Ter)
NM_000313.4(PROS1):c.1204G>T (p.Glu402Ter) rs1553809314
NM_000313.4(PROS1):c.1253dup (p.Asn418fs)
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) rs5017717
NM_000313.4(PROS1):c.1424G>T (p.Cys475Phe)
NM_000313.4(PROS1):c.1465G>T (p.Gly489Ter)
NM_000313.4(PROS1):c.1518G>A (p.Trp506Ter)
NM_000313.4(PROS1):c.1726G>T (p.Glu576Ter)
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)
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)
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)
NM_000313.4(PROS1):c.760C>T (p.Gln254Ter)
NM_000313.4(PROS1):c.77-2A>G
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_000377.3(WAS):c.-37_132+35del rs1602176146
NM_000377.3(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer) rs1569494025
NM_000377.3(WAS):c.100C>T (p.Arg34Ter) rs132630271
NM_000377.3(WAS):c.1021_1022insT (p.Pro341fs) rs2147266379
NM_000377.3(WAS):c.1040dup (p.Leu347fs)
NM_000377.3(WAS):c.1058dup (p.Pro354fs) rs1557007165
NM_000377.3(WAS):c.105_106del (p.Leu35_Phe36insTer)
NM_000377.3(WAS):c.1073dup (p.Pro359fs)
NM_000377.3(WAS):c.1085del (p.Pro362fs) rs2147266474
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.11del (p.Gly4fs) rs587776745
NM_000377.3(WAS):c.1203del (p.Pro402fs)
NM_000377.3(WAS):c.121C>T (p.Arg41Ter) rs11545907
NM_000377.3(WAS):c.1221del (p.Asn408fs)
NM_000377.3(WAS):c.1266del (p.Gly424fs)
NM_000377.3(WAS):c.1271_1317del (p.Gly424fs)
NM_000377.3(WAS):c.1271del (p.Gly424fs)
NM_000377.3(WAS):c.1271dup (p.Leu425fs) rs1557007312
NM_000377.3(WAS):c.1289del (p.Gly430fs)
NM_000377.3(WAS):c.1289dup (p.Arg431fs)
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.1390G>T (p.Glu464Ter)
NM_000377.3(WAS):c.1453+1G>A
NM_000377.3(WAS):c.1453+2T>G rs2147267350
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.172C>A (p.Pro58Thr) rs2062412365
NM_000377.3(WAS):c.176del (p.Pro59fs) rs2147262809
NM_000377.3(WAS):c.192G>A (p.Trp64Ter) rs2147262855
NM_000377.3(WAS):c.19_41del (p.Gly7fs)
NM_000377.3(WAS):c.238C>T (p.Gln80Ter) rs2062412730
NM_000377.3(WAS):c.256C>T (p.Arg86Cys) rs2062412810
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)
NM_000377.3(WAS):c.271C>T (p.Gln91Ter) rs1557006354
NM_000377.3(WAS):c.273+1G>A rs1064794076
NM_000377.3(WAS):c.295del (p.Gln99fs)
NM_000377.3(WAS):c.302T>C (p.Leu101Pro)
NM_000377.3(WAS):c.302_303insC (p.Tyr102fs) rs2062416187
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs) rs2062416272
NM_000377.3(WAS):c.319T>C (p.Tyr107His)
NM_000377.3(WAS):c.355G>T (p.Gly119Ter) rs1602177243
NM_000377.3(WAS):c.35dup (p.Arg13fs) rs2062410421
NM_000377.3(WAS):c.360+1G>A rs1057520700
NM_000377.3(WAS):c.361-1G>C
NM_000377.3(WAS):c.37C>T (p.Arg13Ter) rs193922415
NM_000377.3(WAS):c.382T>C (p.Phe128Leu) rs2147263906
NM_000377.3(WAS):c.383T>C (p.Phe128Ser)
NM_000377.3(WAS):c.399G>T (p.Glu133Asp)
NM_000377.3(WAS):c.401C>T (p.Ala134Val)
NM_000377.3(WAS):c.412dup (p.Arg138fs)
NM_000377.3(WAS):c.436del (p.Gln146fs) rs2062417558
NM_000377.3(WAS):c.451_452del (p.Arg151fs)
NM_000377.3(WAS):c.454C>T (p.Gln152Ter)
NM_000377.3(WAS):c.466del (p.Arg156fs)
NM_000377.3(WAS):c.470_471del (p.Arg157fs) rs1602177562
NM_000377.3(WAS):c.539dup (p.His180fs) rs2147264299
NM_000377.3(WAS):c.559+5G>A rs886039451
NM_000377.3(WAS):c.58C>T (p.Gln20Ter)
NM_000377.3(WAS):c.619_623del (p.Ile207fs)
NM_000377.3(WAS):c.631C>T (p.Arg211Ter) rs1602178165
NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer) rs1602178184
NM_000377.3(WAS):c.687G>T (p.Gly229=)
NM_000377.3(WAS):c.692del (p.Lys231fs) rs2062422078
NM_000377.3(WAS):c.701del (p.Ser234fs)
NM_000377.3(WAS):c.70T>C (p.Ser24Pro) rs2062410722
NM_000377.3(WAS):c.723del (p.Ser242fs) rs2147264981
NM_000377.3(WAS):c.734+1G>C
NM_000377.3(WAS):c.734+2T>A rs1569493877
NM_000377.3(WAS):c.735-2A>G rs1602178800
NM_000377.3(WAS):c.735-2A>T
NM_000377.3(WAS):c.753dup (p.Trp252fs) rs2147265693
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000377.3(WAS):c.778-6G>A rs1557007011
NM_000377.3(WAS):c.803delinsTT (p.Arg268fs) rs1602178952
NM_000377.3(WAS):c.809T>C (p.Leu270Pro) rs132630274
NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT (p.Ile276fs) rs2147265917
NM_000377.3(WAS):c.82C>T (p.Gln28Ter)
NM_000377.3(WAS):c.858del (p.Ser287fs) rs1602179000
NM_000377.3(WAS):c.879_882del (p.Phe293fs)
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000377.3(WAS):c.91G>A (p.Glu31Lys) rs1557006239
NM_000377.3(WAS):c.931+1G>C
NM_000377.3(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.3(WAS):c.964G>T (p.Gly322Ter)
NM_000377.3(WAS):c.969del (p.Asn324fs)
NM_000419.5(ITGA2B):c.1156C>T (p.Arg386Ter)
NM_000419.5(ITGA2B):c.1253del (p.Gly418fs) rs2143465205
NM_000419.5(ITGA2B):c.1389C>G (p.Tyr463Ter)
NM_000419.5(ITGA2B):c.1590del (p.Gln531fs)
NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter) rs137852906
NM_000419.5(ITGA2B):c.2094+2T>C rs1555613692
NM_000419.5(ITGA2B):c.2148dup (p.Leu717fs) rs1598377980
NM_000419.5(ITGA2B):c.2290del (p.Ser764fs)
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) rs1598377051
NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter) rs200846140
NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs) rs2048523750
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter) rs2048642260
NM_000419.5(ITGA2B):c.522C>A (p.Tyr174Ter)
NM_000419.5(ITGA2B):c.559del (p.Val187fs) rs1469711487
NM_000488.4(SERPINC1):c.1009C>T (p.Gln337Ter)
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)
NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter) rs2102778910
NM_000488.4(SERPINC1):c.1207del (p.Ala403fs)
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.1273C>T (p.Arg425Cys) rs121909554
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)
NM_000488.4(SERPINC1):c.1322T>C (p.Leu441Pro)
NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg)
NM_000488.4(SERPINC1):c.205G>T (p.Glu69Ter)
NM_000488.4(SERPINC1):c.243G>A (p.Trp81Ter)
NM_000488.4(SERPINC1):c.28dup (p.Thr10fs)
NM_000488.4(SERPINC1):c.341G>A (p.Ser114Asn) rs1657909645
NM_000488.4(SERPINC1):c.374G>A (p.Gly125Asp)
NM_000488.4(SERPINC1):c.381T>A (p.Cys127Ter) rs2102789590
NM_000488.4(SERPINC1):c.409-1G>C
NM_000488.4(SERPINC1):c.409-1G>T
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)
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)
NM_000506.5(F2):c.1015C>T (p.Arg339Ter)
NM_000506.5(F2):c.1159C>T (p.Gln387Ter) rs2064886777
NM_000506.5(F2):c.13C>T (p.Arg5Ter)
NM_000506.5(F2):c.1499G>A (p.Arg500Gln) rs202003146
NM_000506.5(F2):c.1678C>T (p.Arg560Ter)
NM_000506.5(F2):c.1786C>T (p.Arg596Trp)
NM_000506.5(F2):c.1787G>A (p.Arg596Gln) rs387907201
NM_000506.5(F2):c.349C>T (p.Arg117Ter)
NM_000506.5(F2):c.392dup (p.Trp132fs)
NM_000506.5(F2):c.923_926del (p.Asp308fs)
NM_000506.5(F2):c.954dup (p.Glu319Ter)
NM_001375834.1(WIPF1):c.284del (p.Gly95fs)
NM_001375834.1(WIPF1):c.373C>T (p.Arg125Ter)
NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)
NM_001754.4(RUNX1):c.352-1G>T rs587776809
NM_001754.5(RUNX1):c.1088_1100del (p.Gly363fs)
NM_001754.5(RUNX1):c.1117_1132del (p.Ser373fs)
NM_001754.5(RUNX1):c.1184_1233del (p.Pro395fs)
NM_001754.5(RUNX1):c.1203del (p.Ser402fs)
NM_001754.5(RUNX1):c.1221C>A (p.Tyr407Ter)
NM_001754.5(RUNX1):c.132dup (p.Thr45fs)
NM_001754.5(RUNX1):c.140_150del (p.Leu47fs) rs2146413726
NM_001754.5(RUNX1):c.146del (p.Pro49fs)
NM_001754.5(RUNX1):c.149_158dup (p.Ser53fs) rs2146413580
NM_001754.5(RUNX1):c.159del (p.Ser53fs) rs1569084646
NM_001754.5(RUNX1):c.166_193dup (p.Ala65fs) rs1569084530
NM_001754.5(RUNX1):c.166_196del (p.Leu56fs) rs2058002908
NM_001754.5(RUNX1):c.191_192insA (p.Ala65fs)
NM_001754.5(RUNX1):c.215_216dup (p.Ser73fs) rs1555899813
NM_001754.5(RUNX1):c.228dup (p.Ser77fs)
NM_001754.5(RUNX1):c.247dup (p.Ala83fs) rs2146410761
NM_001754.5(RUNX1):c.253_254insGGGG (p.His85fs) rs2146410489
NM_001754.5(RUNX1):c.277dup (p.Asp93fs)
NM_001754.5(RUNX1):c.285del (p.Asn96fs)
NM_001754.5(RUNX1):c.289_299delinsCTCCTTCCGCTG (p.Phe97fs) rs1601528701
NM_001754.5(RUNX1):c.292_334dup (p.Leu112fs)
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.318G>A (p.Trp106Ter)
NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu) rs121912498
NM_001754.5(RUNX1):c.330G>T (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.334del (p.Leu112fs) rs2057997486
NM_001754.5(RUNX1):c.351+1G>A rs1060502579
NM_001754.5(RUNX1):c.351+1G>C rs1060502579
NM_001754.5(RUNX1):c.351+2T>A rs2057997150
NM_001754.5(RUNX1):c.351+2T>C
NM_001754.5(RUNX1):c.356dup (p.Ala120fs)
NM_001754.5(RUNX1):c.385_395del (p.Leu129fs)
NM_001754.5(RUNX1):c.391_392insATCG (p.Thr131fs)
NM_001754.5(RUNX1):c.400_404del (p.Ala134fs)
NM_001754.5(RUNX1):c.411dup (p.Glu138Ter)
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
NM_001754.5(RUNX1):c.422_423insATACCTTCGGACAAGGGGAATCGGAATAAAAG (p.Ala142fs)
NM_001754.5(RUNX1):c.423_427del (p.Leu144fs)
NM_001754.5(RUNX1):c.424del (p.Ala142fs)
NM_001754.5(RUNX1):c.458del (p.Asn153fs)
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001754.5(RUNX1):c.503del (p.Gly168fs) rs2146360319
NM_001754.5(RUNX1):c.505dup (p.Arg169fs)
NM_001754.5(RUNX1):c.508+3del rs587776810
NM_001754.5(RUNX1):c.528_531dup (p.Thr178fs) rs2146236515
NM_001754.5(RUNX1):c.528del (p.Ile177fs)
NM_001754.5(RUNX1):c.551_552insTACCACAGAGCCATCTGTG (p.Gln185fs)
NM_001754.5(RUNX1):c.585del (p.Thr196fs) rs2146235121
NM_001754.5(RUNX1):c.588_594del (p.Val197fs)
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.5(RUNX1):c.601dup (p.Arg201fs) rs2146234527
NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln) rs74315450
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001754.5(RUNX1):c.637del (p.Gln213fs) rs2146076947
NM_001754.5(RUNX1):c.656_674del (p.Leu219fs)
NM_001754.5(RUNX1):c.664dup (p.Ser222fs) rs2146076572
NM_001754.5(RUNX1):c.695_696del (p.Arg232fs)
NM_001754.5(RUNX1):c.696dup (p.Arg233fs)
NM_001754.5(RUNX1):c.713_726del (p.Val238fs) rs2146075609
NM_001754.5(RUNX1):c.723_729dup (p.Ala244fs)
NM_001754.5(RUNX1):c.764_765del (p.His255fs)
NM_001754.5(RUNX1):c.777dup (p.Asn260Ter) rs2146074811
NM_001754.5(RUNX1):c.782dup (p.Gln262fs)
NM_001754.5(RUNX1):c.799_800dup (p.Met267fs)
NM_001754.5(RUNX1):c.813del (p.Arg271fs) rs2145910106
NM_001754.5(RUNX1):c.814C>T (p.Gln272Ter)
NM_001754.5(RUNX1):c.820C>T (p.Gln274Ter)
NM_001754.5(RUNX1):c.844_856del (p.Asp282fs) rs2056577059
NM_001754.5(RUNX1):c.847C>T (p.Gln283Ter) rs374341207
NM_001754.5(RUNX1):c.861C>A (p.Tyr287Ter) rs121912499
NM_001754.5(RUNX1):c.891_904del (p.Pro298fs)
NM_001754.5(RUNX1):c.911dup (p.Gly305fs)
NM_001754.5(RUNX1):c.952dup (p.Ser318fs)
NM_001754.5(RUNX1):c.958C>T (p.Arg320Ter) rs1569008655
NM_001754.5(RUNX1):c.965C>G (p.Ser322Ter) rs2145906974
NM_001754.5(RUNX1):c.967+2_967+5del rs2056574456
NM_001754.5(RUNX1):c.979_983dup (p.Thr328_Ala329insTer)
NM_003664.4(AP3B1):c.1839_1842delTAGA
NM_003664.5(AP3B1):c.1101dup (p.Phe368fs) rs1744118616
NM_003664.5(AP3B1):c.1255C>T (p.Gln419Ter)
NM_003664.5(AP3B1):c.1286del (p.Gly429fs)
NM_003664.5(AP3B1):c.1408del (p.Gln470fs)
NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.5(AP3B1):c.1619dup (p.Ala541fs) rs1753129765
NM_003664.5(AP3B1):c.1907T>G (p.Leu636Ter)
NM_003664.5(AP3B1):c.1930_1937del (p.Pro644fs)
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.1973_1983dup (p.Pro662fs)
NM_003664.5(AP3B1):c.237_238del (p.Phe80fs) rs2112518616
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003664.5(AP3B1):c.2675_2679del (p.Pro892fs)
NM_003664.5(AP3B1):c.2694_2712del (p.Met899fs) rs2112100310
NM_003664.5(AP3B1):c.2734C>T (p.Arg912Ter)
NM_003664.5(AP3B1):c.2738del (p.Lys913fs) rs2112100217
NM_003664.5(AP3B1):c.2757del (p.Ile919fs) rs2112100189
NM_003664.5(AP3B1):c.2801del (p.Asn934fs) rs2112100020
NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
NM_003664.5(AP3B1):c.624dup (p.Met209fs)
NM_003664.5(AP3B1):c.753T>G (p.Tyr251Ter)
NM_003664.5(AP3B1):c.778del (p.Trp260fs)
NM_003664.5(AP3B1):c.779G>A (p.Trp260Ter) rs1745947620
NM_012388.4(BLOC1S6):c.157del (p.Ala53fs)
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.203_207del (p.Lys68fs)
NM_012388.4(BLOC1S6):c.245T>A (p.Leu82Ter)
NM_012388.4(BLOC1S6):c.261dup (p.Glu88fs)
NM_012388.4(BLOC1S6):c.296T>A (p.Leu99Ter)
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_012388.4(BLOC1S6):c.33_34del (p.Ala12fs)
NM_012388.4(BLOC1S6):c.7_22dup (p.Ser8fs)
NM_012388.4(BLOC1S6):c.88del (p.Ser30fs)
NM_012388.4(BLOC1S6):c.89del (p.Ser30fs)

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