ClinVar Miner

List of variants in gene ADAMTS13 studied for blood coagulation disease

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 414
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HGVS dbSNP gnomAD frequency
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) rs2301612 0.31482
NM_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=) rs1055432 0.26164
NM_139027.6(ADAMTS13):c.2699C>T (p.Ala900Val) rs685523 0.10882
NM_139027.6(ADAMTS13):c.19C>T (p.Arg7Trp) rs34024143 0.09518
NM_139027.6(ADAMTS13):c.987+11C>T rs28729234 0.09160
NM_139027.6(ADAMTS13):c.1852C>G (p.Pro618Ala) rs28647808 0.05902
NM_139027.6(ADAMTS13):c.686+4T>G rs36219245 0.05749
NM_139027.6(ADAMTS13):c.582C>T (p.Gly194=) rs34054981 0.05724
NM_139027.6(ADAMTS13):c.354G>A (p.Pro118=) rs28571612 0.05636
NM_139027.6(ADAMTS13):c.3108G>A (p.Ser1036=) rs34934621 0.03291
NM_139027.6(ADAMTS13):c.2910C>T (p.Val970=) rs28641026 0.03155
NM_139027.6(ADAMTS13):c.3097G>A (p.Ala1033Thr) rs28503257 0.03107
NM_139027.6(ADAMTS13):c.1874G>A (p.Arg625His) rs36090624 0.02177
NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His) rs36220239 0.01611
NM_139027.6(ADAMTS13):c.936C>T (p.Arg312=) rs36219562 0.01608
NM_139027.6(ADAMTS13):c.2508T>C (p.Asp836=) rs36221472 0.01405
NM_139027.6(ADAMTS13):c.2218G>A (p.Glu740Lys) rs36221451 0.01123
NM_139027.6(ADAMTS13):c.1797C>T (p.Ile599=) rs36221216 0.01122
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) rs41314453 0.01000
NM_139027.6(ADAMTS13):c.3678G>A (p.Val1226=) rs36222899 0.00845
NM_139027.6(ADAMTS13):c.1022C>T (p.Pro341Leu) rs115943536 0.00832
NM_139027.6(ADAMTS13):c.1830C>T (p.Ser610=) rs36221217 0.00759
NM_139027.6(ADAMTS13):c.357C>T (p.Ser119=) rs147563206 0.00731
NM_139025.4(ADAMTS13):c.-168C>T rs36218240 0.00689
NM_139027.6(ADAMTS13):c.*168C>T rs142792179 0.00610
NM_139027.6(ADAMTS13):c.3287G>A (p.Arg1096His) rs61751476 0.00571
NM_139027.6(ADAMTS13):c.*77C>T rs180910039 0.00559
NM_139027.6(ADAMTS13):c.2494G>A (p.Val832Met) rs34104386 0.00463
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met) rs141932927 0.00458
NM_139027.6(ADAMTS13):c.1786+16G>A rs36220948 0.00349
NM_139027.6(ADAMTS13):c.1705+14C>T rs191816433 0.00342
NM_139027.6(ADAMTS13):c.3509C>T (p.Thr1170Ile) rs36222894 0.00314
NM_139027.6(ADAMTS13):c.1705+7G>A rs78739717 0.00233
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_139027.6(ADAMTS13):c.3400+45C>T rs141494468 0.00225
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240 0.00209
NM_139027.6(ADAMTS13):c.1245-3C>T rs36219902 0.00130
NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg) rs36222275 0.00112
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_139027.6(ADAMTS13):c.1200C>T (p.Cys400=) rs142570561 0.00082
NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg) rs144808448 0.00078
NM_139027.6(ADAMTS13):c.3400+141G>A rs192619276 0.00076
NM_139027.6(ADAMTS13):c.2580C>T (p.Val860=) rs147112200 0.00073
NM_139027.6(ADAMTS13):c.1359C>T (p.Thr453=) rs148365271 0.00064
NM_139027.6(ADAMTS13):c.2217C>T (p.Leu739=) rs144178018 0.00064
NM_139027.6(ADAMTS13):c.3348G>A (p.Leu1116=) rs146073007 0.00045
NM_139027.6(ADAMTS13):c.1290C>T (p.Ala430=) rs138401488 0.00043
NM_139027.6(ADAMTS13):c.1551G>C (p.Gly517=) rs148472763 0.00043
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_139027.6(ADAMTS13):c.2890G>A (p.Val964Met) rs141811556 0.00041
NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln) rs142779872 0.00041
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met) rs374606481 0.00039
NM_139027.6(ADAMTS13):c.415-5C>T rs200230025 0.00039
NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys) rs145825553 0.00036
NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile) rs34256013 0.00036
NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val) rs145175796 0.00035
NM_139027.6(ADAMTS13):c.3495C>T (p.Leu1165=) rs144916851 0.00028
NM_139027.6(ADAMTS13):c.1976G>A (p.Arg659Lys) rs150764227 0.00021
NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile) rs140639242 0.00021
NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His) rs151048660 0.00020
NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met) rs147732725 0.00020
NM_139027.6(ADAMTS13):c.2009G>A (p.Arg670His) rs149953167 0.00019
NM_139027.6(ADAMTS13):c.870C>T (p.Pro290=) rs754541465 0.00019
NM_139027.6(ADAMTS13):c.546C>T (p.Asp182=) rs148849381 0.00018
NM_139025.4(ADAMTS13):c.-280G>A rs777585429 0.00016
NM_139027.6(ADAMTS13):c.-26C>T rs372036592 0.00016
NM_139027.6(ADAMTS13):c.3773C>T (p.Ser1258Leu) rs142060916 0.00016
NM_139027.6(ADAMTS13):c.2107C>T (p.Leu703=) rs146314458 0.00015
NM_139027.6(ADAMTS13):c.539+7G>A rs184864675 0.00014
NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly) rs121908472 0.00012
NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys) rs138014548 0.00010
NM_139027.6(ADAMTS13):c.3400+23C>T rs200547311 0.00010
NM_139027.6(ADAMTS13):c.2915G>A (p.Arg972Gln) rs139951127 0.00009
NM_139027.6(ADAMTS13):c.3317C>T (p.Ala1106Val) rs370060687 0.00009
NM_139027.6(ADAMTS13):c.3788C>T (p.Thr1263Met) rs375824927 0.00009
NM_139027.6(ADAMTS13):c.2827C>T (p.Arg943Trp) rs149265456 0.00008
NM_139027.6(ADAMTS13):c.2861G>A (p.Arg954Gln) rs200273776 0.00008
NM_139027.6(ADAMTS13):c.3482T>C (p.Ile1161Thr) rs200847393 0.00007
NM_139027.6(ADAMTS13):c.*41G>A rs369498637 0.00006
NM_139027.6(ADAMTS13):c.1435+11C>T rs377454829 0.00006
NM_139027.6(ADAMTS13):c.1816G>C (p.Ala606Pro) rs281875290 0.00006
NM_139027.6(ADAMTS13):c.1841A>C (p.Asn614Thr) rs782396358 0.00006
NM_139027.6(ADAMTS13):c.2008C>T (p.Arg670Cys) rs139214644 0.00006
NM_139027.6(ADAMTS13):c.3044+10C>T rs375335095 0.00006
NM_139027.6(ADAMTS13):c.3545C>T (p.Ala1182Val) rs587697598 0.00006
NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs) rs387906343 0.00006
NM_139027.6(ADAMTS13):c.775G>A (p.Gly259Ser) rs886063632 0.00006
NM_139027.6(ADAMTS13):c.4020G>T (p.Lys1340Asn) rs782518928 0.00005
NM_139027.6(ADAMTS13):c.540-3G>A rs886063631 0.00005
NM_139027.6(ADAMTS13):c.1787-6C>T rs781938740 0.00004
NM_139027.6(ADAMTS13):c.2089G>A (p.Val697Met) rs367818172 0.00004
NM_139027.6(ADAMTS13):c.2746C>T (p.Arg916Cys) rs374444423 0.00004
NM_139027.6(ADAMTS13):c.3153C>T (p.Asp1051=) rs782748173 0.00004
NM_139027.6(ADAMTS13):c.3159G>A (p.Ala1053=) rs200349242 0.00004
NM_139027.6(ADAMTS13):c.3179G>A (p.Arg1060Gln) rs587731517 0.00004
NM_139027.6(ADAMTS13):c.3431C>A (p.Thr1144Lys) rs141056078 0.00004
NM_139027.6(ADAMTS13):c.3488G>A (p.Arg1163Gln) rs782649881 0.00004
NM_139027.6(ADAMTS13):c.3517G>A (p.Val1173Ile) rs587643681 0.00004
NM_139027.6(ADAMTS13):c.539+6C>T rs782661001 0.00004
NM_139025.4(ADAMTS13):c.-155C>T rs587712950 0.00003
NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His) rs121908471 0.00003
NM_139027.6(ADAMTS13):c.1661C>T (p.Thr554Met) rs782771879 0.00003
NM_139027.6(ADAMTS13):c.1979G>A (p.Arg660Gln) rs117943654 0.00003
NM_139027.6(ADAMTS13):c.3400+24G>A rs587709422 0.00003
NM_139027.6(ADAMTS13):c.3400+46G>A rs782472825 0.00003
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile) rs121908470 0.00003
NM_139027.6(ADAMTS13):c.911A>G (p.Tyr304Cys) rs281875285 0.00003
NM_139027.6(ADAMTS13):c.1392C>T (p.Gly464=) rs782239711 0.00002
NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys) rs201457594 0.00002
NM_139027.6(ADAMTS13):c.15C>T (p.His5=) rs77985067 0.00002
NM_139027.6(ADAMTS13):c.1706-3T>A rs781888317 0.00002
NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys) rs121908475 0.00002
NM_139027.6(ADAMTS13):c.3044+8A>C rs886063636 0.00002
NM_139027.6(ADAMTS13):c.304C>T (p.Arg102Cys) rs121908469 0.00002
NM_139027.6(ADAMTS13):c.3449G>A (p.Arg1150Gln) rs781885530 0.00002
NM_139027.6(ADAMTS13):c.3554T>C (p.Met1185Thr) rs1057522240 0.00002
NM_139027.6(ADAMTS13):c.460G>A (p.Val154Ile) rs369026148 0.00002
NM_139027.6(ADAMTS13):c.581G>T (p.Gly194Val) rs1554785242 0.00002
NM_139027.6(ADAMTS13):c.715G>A (p.Gly239Ser) rs1554785883 0.00002
NM_139027.6(ADAMTS13):c.1058C>T (p.Pro353Leu) rs281875338 0.00001
NM_139027.6(ADAMTS13):c.1192C>T (p.Arg398Cys) rs376606652 0.00001
NM_139027.6(ADAMTS13):c.1518C>A (p.Thr506=) rs782315134 0.00001
NM_139027.6(ADAMTS13):c.1584+5G>A rs782235228 0.00001
NM_139027.6(ADAMTS13):c.1706-4C>T rs967189107 0.00001
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) rs281875299 0.00001
NM_139027.6(ADAMTS13):c.1878C>T (p.Val626=) rs781945326 0.00001
NM_139027.6(ADAMTS13):c.1930C>T (p.Arg644Cys) rs782659882 0.00001
NM_139027.6(ADAMTS13):c.2068G>A (p.Ala690Thr) rs374840594 0.00001
NM_139027.6(ADAMTS13):c.231C>T (p.Gly77=) rs367627378 0.00001
NM_139027.6(ADAMTS13):c.2732-8C>T rs886063634 0.00001
NM_139027.6(ADAMTS13):c.2851T>G (p.Cys951Gly) rs121908468 0.00001
NM_139027.6(ADAMTS13):c.2912T>C (p.Val971Ala) rs978677428 0.00001
NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln) rs373569027 0.00001
NM_139027.6(ADAMTS13):c.330+2T>C rs1474290508 0.00001
NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys) rs281875340 0.00001
NM_139027.6(ADAMTS13):c.3400+136T>A rs782166349 0.00001
NM_139027.6(ADAMTS13):c.3400+17G>T rs782724202 0.00001
NM_139027.6(ADAMTS13):c.3400+19C>T rs781785040 0.00001
NM_139027.6(ADAMTS13):c.3400+32C>T rs1554795505 0.00001
NM_139027.6(ADAMTS13):c.3400+93C>T rs587664518 0.00001
NM_139027.6(ADAMTS13):c.3470G>A (p.Cys1157Tyr) rs121908474 0.00001
NM_139027.6(ADAMTS13):c.3839G>A (p.Arg1280Gln) rs782213090 0.00001
NM_139027.6(ADAMTS13):c.3941C>T (p.Ala1314Val) rs782145338 0.00001
NM_139027.6(ADAMTS13):c.4017G>A (p.Leu1339=) rs1393965473 0.00001
NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp) rs281875287 0.00001
NM_139025.3(ADAMTS13):c.[1342C>G;1523G>A]
NM_139027.6(ADAMTS13):c.-52C>G rs587771364
NM_139027.6(ADAMTS13):c.1045C>A (p.Arg349Ser)
NM_139027.6(ADAMTS13):c.1054G>A (p.Val352Ile)
NM_139027.6(ADAMTS13):c.1084G>A (p.Val362Met)
NM_139027.6(ADAMTS13):c.1087G>A (p.Glu363Lys)
NM_139027.6(ADAMTS13):c.1092+16G>A
NM_139027.6(ADAMTS13):c.1109G>A (p.Arg370His)
NM_139027.6(ADAMTS13):c.1123G>T (p.Val375Leu)
NM_139027.6(ADAMTS13):c.1135C>T (p.Pro379Ser)
NM_139027.6(ADAMTS13):c.1150C>T (p.His384Tyr)
NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys) rs142214608
NM_139027.6(ADAMTS13):c.1167C>G (p.Ser389Arg)
NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)
NM_139027.6(ADAMTS13):c.1180A>T (p.Ser394Cys)
NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp) rs1840934191
NM_139027.6(ADAMTS13):c.1262G>A (p.Arg421His)
NM_139027.6(ADAMTS13):c.1262G>C (p.Arg421Pro)
NM_139027.6(ADAMTS13):c.1266del (p.Cys423fs)
NM_139027.6(ADAMTS13):c.1291G>A (p.Glu431Lys)
NM_139027.6(ADAMTS13):c.1296G>A (p.Met432Ile)
NM_139027.6(ADAMTS13):c.1308+2_1308+5del
NM_139027.6(ADAMTS13):c.1309-20C>G rs2130845090
NM_139027.6(ADAMTS13):c.1327C>A (p.Leu443Met)
NM_139027.6(ADAMTS13):c.1335_1336del (p.Met446fs) rs2130845614
NM_139027.6(ADAMTS13):c.1341G>A (p.Ser447=) rs587602874
NM_139027.6(ADAMTS13):c.1345C>T (p.Gln449Ter) rs121908476
NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr) rs375508823
NM_139027.6(ADAMTS13):c.1360G>C (p.Asp454His)
NM_139027.6(ADAMTS13):c.1363G>C (p.Gly455Arg)
NM_139027.6(ADAMTS13):c.1363G>T (p.Gly455Cys)
NM_139027.6(ADAMTS13):c.136G>A (p.Val46Met) rs201522226
NM_139027.6(ADAMTS13):c.1376G>A (p.Arg459His)
NM_139027.6(ADAMTS13):c.1432C>G (p.Gln478Glu)
NM_139027.6(ADAMTS13):c.1435+4G>A
NM_139027.6(ADAMTS13):c.1436-7C>G
NM_139027.6(ADAMTS13):c.1437G>A (p.Gly479=) rs372953477
NM_139027.6(ADAMTS13):c.1456_1457del (p.Met486fs)
NM_139027.6(ADAMTS13):c.1463G>A (p.Arg488Gln)
NM_139027.6(ADAMTS13):c.1477A>C (p.Ser493Arg)
NM_139027.6(ADAMTS13):c.1506C>G (p.Phe502Leu)
NM_139027.6(ADAMTS13):c.1519C>T (p.Arg507Trp) rs909831139
NM_139027.6(ADAMTS13):c.1531A>G (p.Ser511Gly)
NM_139027.6(ADAMTS13):c.1538C>G (p.Pro513Arg)
NM_139027.6(ADAMTS13):c.1543G>A (p.Glu515Lys)
NM_139027.6(ADAMTS13):c.155del (p.Pro52fs)
NM_139027.6(ADAMTS13):c.1571C>T (p.Ser524Leu)
NM_139027.6(ADAMTS13):c.1578C>G (p.Ser526Arg)
NM_139027.6(ADAMTS13):c.1582A>G (p.Arg528Gly) rs121908473
NM_139027.6(ADAMTS13):c.1584+6C>T
NM_139027.6(ADAMTS13):c.1584+9G>A
NM_139027.6(ADAMTS13):c.1585-1G>C rs1554789680
NM_139027.6(ADAMTS13):c.1601G>A (p.Gly534Asp)
NM_139027.6(ADAMTS13):c.1627G>T (p.Asp543Tyr)
NM_139027.6(ADAMTS13):c.1632G>T (p.Arg544Ser)
NM_139027.6(ADAMTS13):c.1672C>T (p.Arg558Trp)
NM_139027.6(ADAMTS13):c.1687A>G (p.Thr563Ala)
NM_139027.6(ADAMTS13):c.1691C>A (p.Ala564Asp)
NM_139027.6(ADAMTS13):c.16C>T (p.Pro6Ser)
NM_139027.6(ADAMTS13):c.1705+17G>A
NM_139027.6(ADAMTS13):c.1705+1G>A
NM_139027.6(ADAMTS13):c.1705+6C>T
NM_139027.6(ADAMTS13):c.1769C>T (p.Pro590Leu)
NM_139027.6(ADAMTS13):c.1783_1784del (p.Leu595fs) rs387906344
NM_139027.6(ADAMTS13):c.1787-1G>A
NM_139027.6(ADAMTS13):c.1787-8C>G rs1841567307
NM_139027.6(ADAMTS13):c.178C>A (p.Pro60Thr)
NM_139027.6(ADAMTS13):c.1801G>A (p.Gly601Arg)
NM_139027.6(ADAMTS13):c.181C>T (p.Pro61Ser)
NM_139027.6(ADAMTS13):c.182C>G (p.Pro61Arg)
NM_139027.6(ADAMTS13):c.1831A>G (p.Ile611Val) rs1841574241
NM_139027.6(ADAMTS13):c.1850A>G (p.Tyr617Cys)
NM_139027.6(ADAMTS13):c.1873C>T (p.Arg625Cys)
NM_139027.6(ADAMTS13):c.1900G>A (p.Glu634Lys)
NM_139027.6(ADAMTS13):c.1907G>A (p.Arg636Gln)
NM_139027.6(ADAMTS13):c.1911G>T (p.Leu637=) rs1841587519
NM_139027.6(ADAMTS13):c.1915C>T (p.Arg639Cys)
NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His) rs138699340
NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys)
NM_139027.6(ADAMTS13):c.1968G>A (p.Gln656=)
NM_139027.6(ADAMTS13):c.1974C>T (p.Tyr658=)
NM_139027.6(ADAMTS13):c.1978C>T (p.Arg660Trp)
NM_139027.6(ADAMTS13):c.197AGAGGC[2] (p.66QR[2])
NM_139027.6(ADAMTS13):c.197AGAGGC[3] (p.66QR[3])
NM_139027.6(ADAMTS13):c.197AGAGGC[5] (p.Arg73_Arg74insGlnArg)
NM_139027.6(ADAMTS13):c.2011C>T (p.Pro671Ser)
NM_139027.6(ADAMTS13):c.2012C>T (p.Pro671Leu) rs281875295
NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe) rs281875307
NM_139027.6(ADAMTS13):c.2056T>C (p.Trp686Arg)
NM_139027.6(ADAMTS13):c.2088G>A (p.Ser696=)
NM_139027.6(ADAMTS13):c.2099G>C (p.Gly700Ala)
NM_139027.6(ADAMTS13):c.2130C>G (p.Cys710Trp) rs1841759683
NM_139027.6(ADAMTS13):c.2130C>T (p.Cys710=)
NM_139027.6(ADAMTS13):c.2173C>T (p.Gln725Ter)
NM_139027.6(ADAMTS13):c.2197T>C (p.Trp733Arg)
NM_139027.6(ADAMTS13):c.2209T>C (p.Cys737Arg) rs1554791280
NM_139027.6(ADAMTS13):c.220_221insAGAGTC (p.Arg73_Arg74insGlnSer)
NM_139027.6(ADAMTS13):c.221G>A (p.Arg74Gln)
NM_139027.6(ADAMTS13):c.2237G>A (p.Trp746Ter)
NM_139027.6(ADAMTS13):c.2254G>A (p.Gly752Ser)
NM_139027.6(ADAMTS13):c.2272T>C (p.Cys758Arg) rs281875300
NM_139027.6(ADAMTS13):c.2278G>A (p.Gly760Ser)
NM_139027.6(ADAMTS13):c.2293C>T (p.Arg765Trp)
NM_139027.6(ADAMTS13):c.2298A>G (p.Pro766=)
NM_139027.6(ADAMTS13):c.2302C>G (p.Arg768Gly)
NM_139027.6(ADAMTS13):c.2302C>T (p.Arg768Cys)
NM_139027.6(ADAMTS13):c.232G>A (p.Gly78Ser)
NM_139027.6(ADAMTS13):c.2362G>A (p.Gly788Arg)
NM_139027.6(ADAMTS13):c.2365G>A (p.Ala789Thr) rs781957737
NM_139027.6(ADAMTS13):c.2376_2401del (p.Ala793fs) rs387906342
NM_139027.6(ADAMTS13):c.2384C>A (p.Ala795Glu)
NM_139027.6(ADAMTS13):c.2393C>A (p.Thr798Asn)
NM_139027.6(ADAMTS13):c.2409C>T (p.Pro803=)
NM_139027.6(ADAMTS13):c.2421-5C>T
NM_139027.6(ADAMTS13):c.2437C>A (p.Pro813Thr)
NM_139027.6(ADAMTS13):c.2509G>A (p.Gly837Ser) rs1554792055
NM_139027.6(ADAMTS13):c.2512C>G (p.Leu838Val)
NM_139027.6(ADAMTS13):c.2533G>A (p.Gly845Arg)
NM_139027.6(ADAMTS13):c.2555del (p.Lys852fs)
NM_139027.6(ADAMTS13):c.2563G>A (p.Ala855Thr)
NM_139027.6(ADAMTS13):c.2590T>C (p.Cys864Arg)
NM_139027.6(ADAMTS13):c.2606G>C (p.Gly869Ala)
NM_139027.6(ADAMTS13):c.2609A>T (p.His870Leu)
NM_139027.6(ADAMTS13):c.2619C>T (p.Ala873=)
NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met) rs281875302
NM_139027.6(ADAMTS13):c.264G>A (p.Val88=)
NM_139027.6(ADAMTS13):c.2694C>T (p.Thr898=)
NM_139027.6(ADAMTS13):c.270C>T (p.Pro90=)
NM_139027.6(ADAMTS13):c.2710T>C (p.Cys904Arg)
NM_139027.6(ADAMTS13):c.2729G>A (p.Arg910Gln)
NM_139027.6(ADAMTS13):c.272A>G (p.Asp91Gly)
NM_139027.6(ADAMTS13):c.280C>T (p.Gln94Ter)
NM_139027.6(ADAMTS13):c.2828G>A (p.Arg943Gln)
NM_139027.6(ADAMTS13):c.2843C>T (p.Ala948Val)
NM_139027.6(ADAMTS13):c.2849C>T (p.Pro950Leu)
NM_139027.6(ADAMTS13):c.2854C>T (p.Pro952Ser)
NM_139027.6(ADAMTS13):c.2862-19T>C
NM_139027.6(ADAMTS13):c.2863dup (p.Trp955fs) rs1588198044
NM_139027.6(ADAMTS13):c.2865G>A (p.Trp955Ter)
NM_139027.6(ADAMTS13):c.286C>G (p.His96Asp) rs121908467
NM_139027.6(ADAMTS13):c.2879C>T (p.Ala960Val)
NM_139027.6(ADAMTS13):c.2885G>A (p.Cys962Tyr)
NM_139027.6(ADAMTS13):c.291_319del (p.Glu98fs) rs387906345
NM_139027.6(ADAMTS13):c.2920_2938del (p.Ile974fs)
NM_139027.6(ADAMTS13):c.2931_2936del (p.Cys977_Arg979delinsTrp) rs387906346
NM_139027.6(ADAMTS13):c.2935del (p.Arg979fs) rs886063635
NM_139027.6(ADAMTS13):c.2957G>A (p.Gly986Asp)
NM_139027.6(ADAMTS13):c.2989G>A (p.Gly997Arg)
NM_139027.6(ADAMTS13):c.2990G>A (p.Gly997Glu)
NM_139027.6(ADAMTS13):c.2998C>G (p.Arg1000Gly)
NM_139027.6(ADAMTS13):c.2999G>A (p.Arg1000His)
NM_139027.6(ADAMTS13):c.3002C>T (p.Pro1001Leu)
NM_139027.6(ADAMTS13):c.3044+4A>G
NM_139027.6(ADAMTS13):c.305G>A (p.Arg102His)
NM_139027.6(ADAMTS13):c.3077C>T (p.Ala1026Val)
NM_139027.6(ADAMTS13):c.3091G>C (p.Gly1031Arg)
NM_139027.6(ADAMTS13):c.3104G>A (p.Arg1035His)
NM_139027.6(ADAMTS13):c.3114C>G (p.Ala1038=)
NM_139027.6(ADAMTS13):c.3124C>T (p.Leu1042Phe)
NM_139027.6(ADAMTS13):c.3158C>T (p.Ala1053Val)
NM_139027.6(ADAMTS13):c.3161C>T (p.Ala1054Val)
NM_139027.6(ADAMTS13):c.3167C>T (p.Ala1056Val) rs376017677
NM_139027.6(ADAMTS13):c.3196C>A (p.Pro1066Thr)
NM_139027.6(ADAMTS13):c.3198_3199del (p.Cys1067fs)
NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter)
NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr) rs1554795391
NM_139027.6(ADAMTS13):c.3280C>T (p.Arg1094Cys)
NM_139027.6(ADAMTS13):c.3281G>A (p.Arg1094His)
NM_139027.6(ADAMTS13):c.3283C>T (p.Arg1095Trp)
NM_139027.6(ADAMTS13):c.3292A>G (p.Thr1098Ala)
NM_139027.6(ADAMTS13):c.330+1G>A rs375415632
NM_139027.6(ADAMTS13):c.331-1G>A rs786205078
NM_139027.6(ADAMTS13):c.3352A>G (p.Lys1118Glu)
NM_139027.6(ADAMTS13):c.3400+106T>C
NM_139027.6(ADAMTS13):c.3400+126C>T
NM_139027.6(ADAMTS13):c.3400+130G>A
NM_139027.6(ADAMTS13):c.3400+143del rs1060499780
NM_139027.6(ADAMTS13):c.3400+149G>T
NM_139027.6(ADAMTS13):c.3400+160T>C
NM_139027.6(ADAMTS13):c.3400+161_3400+175del
NM_139027.6(ADAMTS13):c.3400+33G>A
NM_139027.6(ADAMTS13):c.3400+51A>G
NM_139027.6(ADAMTS13):c.3400G>A (p.Gly1134Ser)
NM_139027.6(ADAMTS13):c.3401-40C>T
NM_139027.6(ADAMTS13):c.3412A>G (p.Arg1138Gly)
NM_139027.6(ADAMTS13):c.3420C>A (p.His1140Gln)
NM_139027.6(ADAMTS13):c.3427C>T (p.Pro1143Ser)
NM_139027.6(ADAMTS13):c.346C>T (p.Arg116Trp)
NM_139027.6(ADAMTS13):c.3483T>C (p.Ile1161=) rs782235608
NM_139027.6(ADAMTS13):c.3502G>A (p.Val1168Met)
NM_139027.6(ADAMTS13):c.3522T>A (p.Leu1174=) rs1842731712
NM_139027.6(ADAMTS13):c.3547G>A (p.Gly1183Arg)
NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe) rs281875291
NM_139027.6(ADAMTS13):c.3571C>T (p.Arg1191Trp)
NM_139027.6(ADAMTS13):c.3573G>C (p.Arg1191=) rs1842757375
NM_139027.6(ADAMTS13):c.3578C>T (p.Thr1193Ile)
NM_139027.6(ADAMTS13):c.3602dup (p.Leu1202fs) rs387906341
NM_139027.6(ADAMTS13):c.3604_3605dup (p.Leu1202fs)
NM_139027.6(ADAMTS13):c.360G>A (p.Leu120=)
NM_139027.6(ADAMTS13):c.3628A>T (p.Thr1210Ser) rs782798764
NM_139027.6(ADAMTS13):c.3633C>G (p.Asn1211Lys)
NM_139027.6(ADAMTS13):c.3635C>T (p.Thr1212Met)
NM_139027.6(ADAMTS13):c.3657C>A (p.Cys1219Ter)
NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=) rs782463983
NM_139027.6(ADAMTS13):c.3661C>T (p.Arg1221Trp)
NM_139027.6(ADAMTS13):c.3680T>C (p.Leu1227Pro)
NM_139027.6(ADAMTS13):c.3695G>A (p.Ser1232Asn)
NM_139027.6(ADAMTS13):c.3714C>T (p.Thr1238=)
NM_139027.6(ADAMTS13):c.3724+1G>A rs1554796161
NM_139027.6(ADAMTS13):c.373C>T (p.Arg125Trp) rs587701622
NM_139027.6(ADAMTS13):c.3794A>G (p.Asn1265Ser) rs200645384
NM_139027.6(ADAMTS13):c.3820A>G (p.Asn1274Asp)
NM_139027.6(ADAMTS13):c.3830C>T (p.Pro1277Leu)
NM_139027.6(ADAMTS13):c.3932G>A (p.Arg1311Lys)
NM_139027.6(ADAMTS13):c.3937_4053del (p.Thr1313_Thr1351del) rs1554797078
NM_139027.6(ADAMTS13):c.3953A>G (p.Gln1318Arg)
NM_139027.6(ADAMTS13):c.3956A>G (p.Gln1319Arg) rs1842931730
NM_139027.6(ADAMTS13):c.3985C>T (p.Gln1329Ter)
NM_139027.6(ADAMTS13):c.4006G>A (p.Glu1336Lys)
NM_139027.6(ADAMTS13):c.4039G>A (p.Gly1347Ser)
NM_139027.6(ADAMTS13):c.4082del (p.Asp1361fs)
NM_139027.6(ADAMTS13):c.4100_4109del (p.Gly1367fs)
NM_139027.6(ADAMTS13):c.414+1G>A rs786205077
NM_139027.6(ADAMTS13):c.415-1G>A rs1554785114
NM_139027.6(ADAMTS13):c.41G>C (p.Cys14Ser)
NM_139027.6(ADAMTS13):c.449C>A (p.Ser150Tyr)
NM_139027.6(ADAMTS13):c.463T>C (p.Cys155Arg)
NM_139027.6(ADAMTS13):c.485A>C (p.Asn162Thr)
NM_139027.6(ADAMTS13):c.485A>G (p.Asn162Ser)
NM_139027.6(ADAMTS13):c.539+5C>T
NM_139027.6(ADAMTS13):c.55C>T (p.Leu19Phe)
NM_139027.6(ADAMTS13):c.569G>A (p.Arg190Gln)
NM_139027.6(ADAMTS13):c.583G>A (p.Val195Ile)
NM_139027.6(ADAMTS13):c.58G>A (p.Ala20Thr)
NM_139027.6(ADAMTS13):c.610C>T (p.Pro204Ser)
NM_139027.6(ADAMTS13):c.634G>A (p.Glu212Lys)
NM_139027.6(ADAMTS13):c.649G>A (p.Asp217Asn)
NM_139027.6(ADAMTS13):c.649G>T (p.Asp217Tyr)
NM_139027.6(ADAMTS13):c.687-7C>A
NM_139027.6(ADAMTS13):c.687-8C>G
NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His) rs281875337
NM_139027.6(ADAMTS13):c.703G>T (p.Asp235Tyr)
NM_139027.6(ADAMTS13):c.710C>T (p.Ala237Val)
NM_139027.6(ADAMTS13):c.717C>T (p.Gly239=)
NM_139027.6(ADAMTS13):c.722G>A (p.Gly241Asp)
NM_139027.6(ADAMTS13):c.722del (p.Gly241fs)
NM_139027.6(ADAMTS13):c.725G>A (p.Cys242Tyr)
NM_139027.6(ADAMTS13):c.749C>T (p.Ala250Val) rs121908478
NM_139027.6(ADAMTS13):c.769C>G (p.Arg257Gly)
NM_139027.6(ADAMTS13):c.781del (p.Ala261fs)
NM_139027.6(ADAMTS13):c.826G>A (p.Ala276Thr)
NM_139027.6(ADAMTS13):c.833G>C (p.Arg278Pro)
NM_139027.6(ADAMTS13):c.841T>C (p.Cys281Arg)
NM_139027.6(ADAMTS13):c.845T>A (p.Val282Glu)
NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter) rs2130769073
NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter)
NM_139027.6(ADAMTS13):c.868C>T (p.Pro290Ser)
NM_139027.6(ADAMTS13):c.881G>T (p.Gly294Val)
NM_139027.6(ADAMTS13):c.890C>T (p.Pro297Leu)
NM_139027.6(ADAMTS13):c.905G>A (p.Gly302Asp) rs1232529325
NM_139027.6(ADAMTS13):c.910T>C (p.Tyr304His)
NM_139027.6(ADAMTS13):c.919G>A (p.Ala307Thr)
NM_139027.6(ADAMTS13):c.925G>C (p.Glu309Gln)
NM_139027.6(ADAMTS13):c.950C>T (p.Pro317Leu)
NM_139027.6(ADAMTS13):c.961G>C (p.Ala321Pro)
NM_139027.6(ADAMTS13):c.965G>T (p.Cys322Phe)
NM_139027.6(ADAMTS13):c.968C>G (p.Thr323Ser)
NM_139027.6(ADAMTS13):c.978G>C (p.Arg326Ser)

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