ClinVar Miner

List of variants in gene VWF reported by Academic Unit of Haematology, University of Sheffield

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Gene type:
ClinVar version:
Total variants: 382
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) rs2228317 0.05696
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_000552.5(VWF):c.5170+10C>T rs61750601 0.00400
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000552.5(VWF):c.385C>A (p.Leu129Met) rs61753991 0.00225
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_000552.5(VWF):c.6938G>A (p.Arg2313His) rs62641242 0.00077
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_000552.5(VWF):c.5014G>A (p.Gly1672Arg) rs61750598 0.00018
NM_000552.5(VWF):c.1781C>G (p.Ala594Gly) rs267607308 0.00016
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val) rs150923481 0.00016
NM_000552.5(VWF):c.2344C>T (p.Arg782Trp) rs61748471 0.00015
NM_000552.5(VWF):c.4024C>T (p.Arg1342Cys) rs61749404 0.00015
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala) rs267607353 0.00014
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_000552.5(VWF):c.6599-20A>T rs61750621 0.00012
NM_000552.5(VWF):c.1533+15G>A rs184217564 0.00010
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000552.5(VWF):c.3281T>C (p.Ile1094Thr) rs267607317 0.00007
NM_000552.5(VWF):c.4747C>T (p.Arg1583Trp) rs61750116 0.00006
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_000552.5(VWF):c.7135C>T (p.Arg2379Cys) rs61751283 0.00006
NM_000552.5(VWF):c.7300C>T (p.Arg2434Ter) rs62643640 0.00006
NM_000552.5(VWF):c.7552G>A (p.Gly2518Ser) rs61751293 0.00006
NM_000552.5(VWF):c.2635G>A (p.Asp879Asn) rs61748485 0.00005
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_000552.5(VWF):c.6433C>T (p.Pro2145Ser) rs61750618 0.00005
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_000552.5(VWF):c.8164C>G (p.Pro2722Ala) rs62641244 0.00004
NM_000552.5(VWF):c.817C>T (p.Arg273Trp) rs61753997 0.00004
NM_000552.5(VWF):c.2279G>A (p.Arg760His) rs61748467 0.00003
NM_000552.5(VWF):c.2435C>T (p.Pro812Leu) rs62643631 0.00003
NM_000552.5(VWF):c.2447G>A (p.Arg816Gln) rs62643634 0.00003
NM_000552.5(VWF):c.971G>A (p.Arg324Gln) rs61754001 0.00003
NM_000552.5(VWF):c.3159G>T (p.Gln1053His) rs61748496 0.00002
NM_000552.5(VWF):c.3379+1G>A rs2363337 0.00002
NM_000552.5(VWF):c.3923G>A (p.Arg1308His) rs61749388 0.00002
NM_000552.5(VWF):c.4238C>T (p.Pro1413Leu) rs61750079 0.00002
NM_000552.5(VWF):c.4944del (p.Ile1649fs) rs61750591 0.00002
NM_000552.5(VWF):c.6932G>A (p.Arg2311His) rs267607357 0.00002
NM_000552.5(VWF):c.100C>T (p.Arg34Ter) rs61753984 0.00001
NM_000552.5(VWF):c.1534-3C>A rs61754009 0.00001
NM_000552.5(VWF):c.1657dup (p.Trp553fs) rs267607307 0.00001
NM_000552.5(VWF):c.1946-4C>T rs61748461 0.00001
NM_000552.5(VWF):c.2269_2270del (p.Leu757fs) rs61748465 0.00001
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys) rs61748466 0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp) rs61748482 0.00001
NM_000552.5(VWF):c.260A>C (p.Tyr87Ser) rs62643621 0.00001
NM_000552.5(VWF):c.2770C>T (p.Arg924Trp) rs61748491 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.3320A>G (p.Tyr1107Cys) rs267607319 0.00001
NM_000552.5(VWF):c.3905A>G (p.Asp1302Gly) rs61749382 0.00001
NM_000552.5(VWF):c.3917G>A (p.Arg1306Gln) rs61749385 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser) rs61749398 0.00001
NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys) rs61749407 0.00001
NM_000552.5(VWF):c.4079T>C (p.Val1360Ala) rs267607338 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr) rs61750084 0.00001
NM_000552.5(VWF):c.4339G>C (p.Glu1447Gln) rs61750085 0.00001
NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala) rs61750090 0.00001
NM_000552.5(VWF):c.4399C>T (p.Pro1467Ser) rs61750091 0.00001
NM_000552.5(VWF):c.4696C>T (p.Arg1566Ter) rs61750112 0.00001
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter) rs61750606 0.00001
NM_000552.5(VWF):c.5453A>G (p.Asn1818Ser) rs61750608 0.00001
NM_000552.5(VWF):c.5545G>A (p.Val1849Met) rs61750611 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000552.5(VWF):c.55G>A (p.Gly19Arg) rs61753983 0.00001
NM_000552.5(VWF):c.6311C>T (p.Thr2104Ile) rs61750616 0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) rs61751288 0.00001
NM_000552.5(VWF):c.7437G>A (p.Ser2479=) rs267607363 0.00001
NM_000552.5(VWF):c.7489T>C (p.Ser2497Pro) rs61751292 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_000552.5(VWF):c.8216G>A (p.Cys2739Tyr) rs61751305 0.00001
NM_000552.5(VWF):c.8327C>T (p.Pro2776Leu) rs61751312 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
NM_000552.2(VWF):c.-1873A>G rs267607373
NM_000552.2(VWF):c.-1896C>T rs267607374
NM_000552.2(VWF):c.-2328T>G rs267607375
NM_000552.2(VWF):c.-2615A>G rs267607376
NM_000552.5(VWF):c.100C>G (p.Arg34Gly) rs61753984
NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter) rs61754002
NM_000552.5(VWF):c.1093C>T (p.Arg365Ter) rs61754003
NM_000552.5(VWF):c.1109+2T>C rs61754004
NM_000552.5(VWF):c.1110-1G>A rs61754005
NM_000552.5(VWF):c.1117C>T (p.Arg373Ter) rs62643625
NM_000552.5(VWF):c.1131G>T (p.Trp377Cys) rs62643626
NM_000552.5(VWF):c.1213_1214insATCCCA (p.Phe404_Thr405insAsnPro) rs61754006
NM_000552.5(VWF):c.1280T>A (p.Ile427Asn) rs61754007
NM_000552.5(VWF):c.1309_1326del (p.Asp437_Arg442del) rs267607305
NM_000552.5(VWF):c.139G>C (p.Asp47His) rs61753985
NM_000552.5(VWF):c.147C>A (p.Ser49Arg) rs61753986
NM_000552.5(VWF):c.1573G>A (p.Gly525Arg) rs267607306
NM_000552.5(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.5(VWF):c.1648G>A (p.Gly550Arg) rs61754011
NM_000552.5(VWF):c.1709G>C (p.Cys570Ser) rs61754013
NM_000552.5(VWF):c.171C>A (p.Cys57Ter) rs61753987
NM_000552.5(VWF):c.1730-2A>G rs61754014
NM_000552.5(VWF):c.1830C>A (p.Tyr610Ter) rs61754015
NM_000552.5(VWF):c.1858G>T (p.Glu620Ter) rs61754016
NM_000552.5(VWF):c.1868GCG[3] (p.Gly624dup) rs61754018
NM_000552.5(VWF):c.1869C>G (p.Cys623Trp) rs61754017
NM_000552.5(VWF):c.191del (p.Gly64fs) rs62643618
NM_000552.5(VWF):c.1926G>A (p.Trp642Ter) rs61754666
NM_000552.5(VWF):c.1930G>T (p.Glu644Ter) rs61748460
NM_000552.5(VWF):c.2016_2019del (p.Ser673fs) rs61748462
NM_000552.5(VWF):c.2072del (p.Pro691fs) rs267607309
NM_000552.5(VWF):c.2116C>T (p.Gln706Ter) rs61748463
NM_000552.5(VWF):c.2124_2125del (p.Cys709fs) rs61748464
NM_000552.5(VWF):c.212C>A (p.Ser71Ter) rs62643619
NM_000552.5(VWF):c.2157del (p.Asp720fs) rs62643628
NM_000552.5(VWF):c.2284A>G (p.Lys762Glu) rs267607310
NM_000552.5(VWF):c.2287A>G (p.Arg763Gly) rs61748469
NM_000552.5(VWF):c.2313G>T (p.Met771Ile) rs61748470
NM_000552.5(VWF):c.2345G>A (p.Arg782Gln) rs61748472
NM_000552.5(VWF):c.2354G>A (p.Gly785Glu) rs61748473
NM_000552.5(VWF):c.2359G>A (p.Glu787Lys) rs61748474
NM_000552.5(VWF):c.2362T>C (p.Cys788Arg) rs61748475
NM_000552.5(VWF):c.2363G>A (p.Cys788Tyr) rs61748476
NM_000552.5(VWF):c.2365A>C (p.Thr789Pro) rs1063856
NM_000552.5(VWF):c.2384A>G (p.Tyr795Cys) rs61748478
NM_000552.5(VWF):c.2398A>G (p.Met800Val) rs61748479
NM_000552.5(VWF):c.2411G>T (p.Cys804Phe) rs62643630
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.2443-1G>C rs61748480
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.253T>C (p.Ser85Pro) rs62643620
NM_000552.5(VWF):c.2540dup (p.Asn847fs) rs267607311
NM_000552.5(VWF):c.2573G>T (p.Cys858Phe) rs61748484
NM_000552.5(VWF):c.2641del (p.Leu881fs) rs61748486
NM_000552.5(VWF):c.2685+2T>C rs61748487
NM_000552.5(VWF):c.2686-1G>C rs61748488
NM_000552.5(VWF):c.2686-2A>G rs61748489
NM_000552.5(VWF):c.2734_2735insT (p.Lys912fs) rs61748490
NM_000552.5(VWF):c.276del (p.Phe92fs) rs61753988
NM_000552.5(VWF):c.276dup (p.Asp93Ter) rs61753988
NM_000552.5(VWF):c.2820+1G>A rs61748492
NM_000552.5(VWF):c.2820+1G>C rs61748492
NM_000552.5(VWF):c.2936G>A (p.Ser979Asn) rs267607312
NM_000552.5(VWF):c.2986T>G (p.Cys996Gly) rs61748493
NM_000552.5(VWF):c.3072del (p.Trp1025fs) rs267607313
NM_000552.5(VWF):c.3178T>C (p.Cys1060Arg) rs61748497
NM_000552.5(VWF):c.3179G>A (p.Cys1060Tyr) rs267607314
NM_000552.5(VWF):c.3212G>T (p.Cys1071Phe) rs267607315
NM_000552.5(VWF):c.3232G>A (p.Glu1078Lys) rs267607316
NM_000552.5(VWF):c.3301T>C (p.Cys1101Arg) rs202034414
NM_000552.5(VWF):c.3303C>G (p.Cys1101Trp) rs267607318
NM_000552.5(VWF):c.3332G>A (p.Cys1111Tyr) rs267607320
NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser) rs267607321
NM_000552.5(VWF):c.3385_3386del (p.Ser1129fs) rs267607322
NM_000552.5(VWF):c.3388T>C (p.Cys1130Arg) rs267607323
NM_000552.5(VWF):c.3388T>G (p.Cys1130Gly) rs267607323
NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe) rs267607324
NM_000552.5(VWF):c.3430T>G (p.Trp1144Gly) rs267607325
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.5(VWF):c.3445T>C (p.Cys1149Arg) rs61748511
NM_000552.5(VWF):c.3460C>T (p.Gln1154Ter) rs267607327
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.5(VWF):c.3470G>T (p.Cys1157Phe) rs267607329
NM_000552.5(VWF):c.3511G>C (p.Glu1171Gln) rs267607330
NM_000552.5(VWF):c.3538+1G>A rs267607331
NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg) rs267607332
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.5(VWF):c.3586T>C (p.Cys1196Arg) rs61749365
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.3614G>T (p.Arg1205Leu) rs121964895
NM_000552.5(VWF):c.3673T>G (p.Cys1225Gly) rs267607333
NM_000552.5(VWF):c.3679T>C (p.Cys1227Arg) rs61749366
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000552.5(VWF):c.3702T>G (p.Cys1234Trp) rs61749369
NM_000552.5(VWF):c.374_387del (p.Gly125fs) rs63749066
NM_000552.5(VWF):c.375_376delinsC (p.Tyr126fs) rs267607300
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3802C>A (p.His1268Asn) rs61749371
NM_000552.5(VWF):c.3802C>G (p.His1268Asp) rs61749371
NM_000552.5(VWF):c.3806_3814dup (p.Tyr1271_Cys1272insTyrPheTyr) rs63524160
NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg) rs61749372
NM_000552.5(VWF):c.3814T>G (p.Cys1272Gly) rs61749372
NM_000552.5(VWF):c.3815G>C (p.Cys1272Ser) rs63524161
NM_000552.5(VWF):c.3815G>T (p.Cys1272Phe) rs63524161
NM_000552.5(VWF):c.3827T>C (p.Leu1276Pro) rs61749374
NM_000552.5(VWF):c.3831_3833del (p.Asp1277_Leu1278delinsGlu) rs61749375
NM_000552.5(VWF):c.3835G>T (p.Val1279Phe) rs61749376
NM_000552.5(VWF):c.3839_3845dup (p.Asp1283fs) rs61749377
NM_000552.5(VWF):c.3845T>G (p.Leu1282Arg) rs61749378
NM_000552.5(VWF):c.3853T>C (p.Ser1285Pro) rs61749379
NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe) rs61749380
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.5(VWF):c.3877T>C (p.Phe1293Leu) rs267607335
NM_000552.5(VWF):c.3887T>C (p.Leu1296Pro) rs61749381
NM_000552.5(VWF):c.3907ATG[3] (p.Met1304dup) rs61749383
NM_000552.5(VWF):c.3910A>G (p.Met1304Val) rs267607336
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3917G>T (p.Arg1306Leu) rs61749385
NM_000552.5(VWF):c.3920T>C (p.Leu1307Pro) rs61749386
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3923G>C (p.Arg1308Pro) rs61749388
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val) rs61749389
NM_000552.5(VWF):c.3929C>T (p.Ser1310Phe) rs61749390
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) rs267607337
NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys) rs61749392
NM_000552.5(VWF):c.3940G>C (p.Val1314Leu) rs61749393
NM_000552.5(VWF):c.3940G>T (p.Val1314Phe) rs61749393
NM_000552.5(VWF):c.3941T>A (p.Val1314Asp) rs61749394
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.3944G>T (p.Arg1315Leu) rs61749396
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.3971G>C (p.Gly1324Ala) rs61749399
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu) rs61749400
NM_000552.5(VWF):c.4013C>G (p.Ser1338Ter) rs61749401
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4022G>C (p.Arg1341Pro) rs61749403
NM_000552.5(VWF):c.4022G>T (p.Arg1341Leu) rs61749403
NM_000552.5(VWF):c.4036C>T (p.Gln1346Ter) rs61749405
NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser) rs61749408
NM_000552.5(VWF):c.4085A>C (p.Lys1362Thr) rs61750067
NM_000552.5(VWF):c.4092_4093del (p.Leu1365fs) rs61750068
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4120C>A (p.Arg1374Ser) rs61750071
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu) rs61750072
NM_000552.5(VWF):c.4133C>T (p.Ser1378Phe) rs61750073
NM_000552.5(VWF):c.4148T>C (p.Leu1383Pro) rs61750075
NM_000552.5(VWF):c.4148T>G (p.Leu1383Arg) rs61750075
NM_000552.5(VWF):c.4173_4205del (p.Arg1392_Gln1402del) rs63749069
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
NM_000552.5(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.5(VWF):c.421G>T (p.Asp141Tyr) rs61753992
NM_000552.5(VWF):c.422A>G (p.Asp141Gly) rs61753993
NM_000552.5(VWF):c.4244G>A (p.Gly1415Asp) rs61750080
NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn) rs61750081
NM_000552.5(VWF):c.4263C>G (p.Asn1421Lys) rs61750082
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe) rs61750083
NM_000552.5(VWF):c.4368C>A (p.Tyr1456Ter) rs61750086
NM_000552.5(VWF):c.4368C>G (p.Tyr1456Ter) rs61750086
NM_000552.5(VWF):c.4373G>A (p.Cys1458Tyr) rs61750087
NM_000552.5(VWF):c.4378C>G (p.Leu1460Val) rs61750088
NM_000552.5(VWF):c.4382C>A (p.Ala1461Asp) rs61750089
NM_000552.5(VWF):c.4382C>T (p.Ala1461Val) rs61750089
NM_000552.5(VWF):c.4414delinsCC (p.Asp1472fs) rs1555194995
NM_000552.5(VWF):c.4415_4416insG (p.Asp1472fs) rs61750093
NM_000552.5(VWF):c.4423C>T (p.Gln1475Ter) rs61750094
NM_000552.5(VWF):c.4453del (p.Val1485fs) rs61750095
NM_000552.5(VWF):c.4499C>A (p.Ala1500Glu) rs61750096
NM_000552.5(VWF):c.449T>A (p.Leu150Gln) rs61753994
NM_000552.5(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.5(VWF):c.4508T>A (p.Leu1503Gln) rs61750097
NM_000552.5(VWF):c.4508T>C (p.Leu1503Pro) rs61750097
NM_000552.5(VWF):c.4508T>G (p.Leu1503Arg) rs61750097
NM_000552.5(VWF):c.4513G>C (p.Gly1505Arg) rs61750098
NM_000552.5(VWF):c.4514G>A (p.Gly1505Glu) rs61750099
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys) rs61750101
NM_000552.5(VWF):c.4552A>G (p.Lys1518Glu) rs61750102
NM_000552.5(VWF):c.4570del (p.Glu1523_Val1524insTer) rs61750103
NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del) rs267607340
NM_000552.5(VWF):c.4616T>A (p.Val1539Glu) rs267607341
NM_000552.5(VWF):c.4619T>C (p.Leu1540Pro) rs267607342
NM_000552.5(VWF):c.4626C>G (p.Tyr1542Ter) rs267607343
NM_000552.5(VWF):c.4628C>T (p.Ser1543Phe) rs267607344
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer) rs267607345
NM_000552.5(VWF):c.4637_4645del (p.Val1546_Val1548del) rs267607346
NM_000552.5(VWF):c.4645G>A (p.Glu1549Lys) rs267607347
NM_000552.5(VWF):c.4667A>G (p.Gln1556Arg) rs61750110
NM_000552.5(VWF):c.4685T>C (p.Leu1562Pro) rs61750111
NM_000552.5(VWF):c.4703T>A (p.Ile1568Asn) rs267607348
NM_000552.5(VWF):c.4717G>A (p.Gly1573Ser) rs267607349
NM_000552.5(VWF):c.4735G>A (p.Gly1579Arg) rs61750113
NM_000552.5(VWF):c.4738C>G (p.Leu1580Val) rs61750114
NM_000552.5(VWF):c.4739T>C (p.Leu1580Pro) rs61750115
NM_000552.5(VWF):c.4789C>G (p.Arg1597Gly) rs61750117
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.5(VWF):c.478G>T (p.Gly160Trp) rs61753995
NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln) rs61750577
NM_000552.5(VWF):c.4790G>T (p.Arg1597Leu) rs61750577
NM_000552.5(VWF):c.4808T>C (p.Leu1603Pro) rs267607350
NM_000552.5(VWF):c.4810G>T (p.Val1604Phe) rs61750578
NM_000552.5(VWF):c.4820T>A (p.Val1607Asp) rs61750579
NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg) rs61750580
NM_000552.5(VWF):c.4837T>C (p.Ser1613Pro) rs61750581
NM_000552.5(VWF):c.4841A>G (p.Asp1614Gly) rs61750582
NM_000552.5(VWF):c.4880C>A (p.Pro1627His) rs61750583
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.4885G>A (p.Gly1629Arg) rs61750585
NM_000552.5(VWF):c.4886del (p.Gly1629fs) rs61750586
NM_000552.5(VWF):c.4889T>A (p.Val1630Glu) rs61750587
NM_000552.5(VWF):c.4912G>A (p.Glu1638Lys) rs61750588
NM_000552.5(VWF):c.4916T>C (p.Leu1639Pro) rs61750589
NM_000552.5(VWF):c.4942C>T (p.Pro1648Ser) rs61750590
NM_000552.5(VWF):c.4943C>G (p.Pro1648Arg) rs267607351
NM_000552.5(VWF):c.4969C>A (p.Leu1657Ile) rs61750592
NM_000552.5(VWF):c.4970T>A (p.Leu1657His) rs61750593
NM_000552.5(VWF):c.4975dup (p.Arg1659fs) rs61750594
NM_000552.5(VWF):c.497A>T (p.Asn166Ile) rs62643622
NM_000552.5(VWF):c.4994T>A (p.Val1665Glu) rs61750596
NM_000552.5(VWF):c.5004G>T (p.Arg1668Ser) rs61750597
NM_000552.5(VWF):c.5023_5024delinsTA (p.Leu1675Ter) rs61750599
NM_000552.5(VWF):c.5053+1G>A rs61750600
NM_000552.5(VWF):c.5053+1G>T rs61750600
NM_000552.5(VWF):c.5180_5181insTT (p.Thr1728fs) rs61750602
NM_000552.5(VWF):c.5235G>T (p.Trp1745Cys) rs267607352
NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser) rs61750605
NM_000552.5(VWF):c.533-2A>G rs267607301
NM_000552.5(VWF):c.5356C>G (p.His1786Asp) rs267607354
NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu) rs267607355
NM_000552.5(VWF):c.5465T>G (p.Val1822Gly) rs61750609
NM_000552.5(VWF):c.5471C>A (p.Pro1824His) rs61750610
NM_000552.5(VWF):c.5890C>A (p.Gln1964Lys) rs267607356
NM_000552.5(VWF):c.5941G>T (p.Glu1981Ter) rs61750613
NM_000552.5(VWF):c.6182del (p.Phe2061fs) rs61750614
NM_000552.5(VWF):c.6385G>T (p.Glu2129Ter) rs61750617
NM_000552.5(VWF):c.6520T>G (p.Cys2174Gly) rs61750619
NM_000552.5(VWF):c.652C>T (p.Gln218Ter) rs62643623
NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe) rs61750620
NM_000552.5(VWF):c.6620T>C (p.Leu2207Pro) rs61750622
NM_000552.5(VWF):c.666G>A (p.Trp222Ter) rs62643624
NM_000552.5(VWF):c.6697G>C (p.Glu2233Gln) rs61750623
NM_000552.5(VWF):c.6769T>A (p.Cys2257Ser) rs62643638
NM_000552.5(VWF):c.6798+1G>T rs61750624
NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr) rs61750626
NM_000552.5(VWF):c.6977-1G>C rs61750627
NM_000552.5(VWF):c.7018T>C (p.Cys2340Arg) rs61750628
NM_000552.5(VWF):c.7028G>T (p.Gly2343Val) rs61750629
NM_000552.5(VWF):c.7082-2A>G rs267607358
NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe) rs61750630
NM_000552.5(VWF):c.7130dup (p.His2378fs) rs267607359
NM_000552.5(VWF):c.7139dup (p.Leu2380fs) rs267607361
NM_000552.5(VWF):c.7176T>G (p.Tyr2392Ter) rs61751285
NM_000552.5(VWF):c.7294_7295del (p.Val2432fs) rs62643639
NM_000552.5(VWF):c.7321G>T (p.Gly2441Cys) rs62643641
NM_000552.5(VWF):c.7377_7393dup (p.Val2465delinsAlaTer) rs267607362
NM_000552.5(VWF):c.7405T>C (p.Ser2469Pro) rs61751287
NM_000552.5(VWF):c.7430G>A (p.Cys2477Tyr) rs61751289
NM_000552.5(VWF):c.7430G>C (p.Cys2477Ser) rs61751289
NM_000552.5(VWF):c.7437+1G>A rs61751290
NM_000552.5(VWF):c.7449_7450insA (p.Val2484fs) rs61751291
NM_000552.5(VWF):c.7559A>C (p.Gln2520Pro) rs61751294
NM_000552.5(VWF):c.7599T>A (p.Cys2533Ter) rs61751295
NM_000552.5(VWF):c.7630C>T (p.Gln2544Ter) rs61751297
NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.5(VWF):c.7674dup (p.Ser2559fs) rs267607365
NM_000552.5(VWF):c.7683del (p.Gln2562fs) rs61751300
NM_000552.5(VWF):c.7729+7C>T rs61751301
NM_000552.5(VWF):c.7730-1G>C rs267607366
NM_000552.5(VWF):c.788_811del (p.Cys263_Glu270del) rs63749067
NM_000552.5(VWF):c.8012G>A (p.Cys2671Tyr) rs61751303
NM_000552.5(VWF):c.8078G>A (p.Cys2693Tyr) rs62641243
NM_000552.5(VWF):c.8155+3G>C rs61751304
NM_000552.5(VWF):c.8155+3G>T rs61751304
NM_000552.5(VWF):c.8187_8194del (p.Arg2730fs) rs267607367
NM_000552.5(VWF):c.823T>A (p.Cys275Ser) rs61753998
NM_000552.5(VWF):c.823T>C (p.Cys275Arg) rs61753998
NM_000552.5(VWF):c.8244_8252del (p.His2748_Cys2750del) rs267607368
NM_000552.5(VWF):c.8262T>G (p.Cys2754Trp) rs61751306
NM_000552.5(VWF):c.8311T>A (p.Cys2771Ser) rs61751307
NM_000552.5(VWF):c.8312G>A (p.Cys2771Tyr) rs61751308
NM_000552.5(VWF):c.8316del (p.Cys2773fs) rs61751309
NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg) rs61751310
NM_000552.5(VWF):c.8318G>C (p.Cys2773Ser) rs61751311
NM_000552.5(VWF):c.8341C>T (p.Pro2781Ser) rs61751313
NM_000552.5(VWF):c.8402C>A (p.Ala2801Asp) rs267607369
NM_000552.5(VWF):c.8411G>A (p.Cys2804Tyr) rs267607370
NM_000552.5(VWF):c.8412_8413insTCCCC (p.Lys2805fs) rs267607371
NM_000552.5(VWF):c.8416T>C (p.Cys2806Arg) rs267607372
NM_000552.5(VWF):c.874+1G>A rs267607302
NM_000552.5(VWF):c.893dup (p.Met299fs) rs267607303
NM_000552.5(VWF):c.988dup (p.Ser330fs) rs267607304

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