ClinVar Miner

List of variants studied for Upshaw-Schulman syndrome

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Minimum conflict level:
ClinVar version:
Total variants: 198
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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_139025.4(ADAMTS13):c.-357T>C rs34265876 0.07895
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.824+13C>T rs149586801 0.00593
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.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.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.775G>A (p.Gly259Ser) rs886063632 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.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.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.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.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.1841A>C (p.Asn614Thr) rs782396358 0.00003
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile) rs121908470 0.00003
NM_139027.6(ADAMTS13):c.824+12C>T rs587678724 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.715G>A (p.Gly239Ser) rs1554785883 0.00002
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.1878C>T (p.Val626=) rs781945326 0.00001
NM_139027.6(ADAMTS13):c.1930C>T (p.Arg644Cys) rs782659882 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.330+2T>C rs1474290508 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.1156C>T (p.Arg386Cys) rs142214608
NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)
NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp) rs1840934191
NM_139027.6(ADAMTS13):c.1309-20C>G rs2130845090
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.136G>A (p.Val46Met) rs201522226
NM_139027.6(ADAMTS13):c.1437G>A (p.Gly479=) rs372953477
NM_139027.6(ADAMTS13):c.1582A>G (p.Arg528Gly) rs121908473
NM_139027.6(ADAMTS13):c.1585-1G>C rs1554789680
NM_139027.6(ADAMTS13):c.1691C>A (p.Ala564Asp)
NM_139027.6(ADAMTS13):c.1705+1G>A
NM_139027.6(ADAMTS13):c.1783_1784del (p.Leu595fs) rs387906344
NM_139027.6(ADAMTS13):c.1787-8C>G rs1841567307
NM_139027.6(ADAMTS13):c.1831A>G (p.Ile611Val) rs1841574241
NM_139027.6(ADAMTS13):c.1911G>T (p.Leu637=) rs1841587519
NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His) rs138699340
NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys)
NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe) rs281875307
NM_139027.6(ADAMTS13):c.2130C>G (p.Cys710Trp) rs1841759683
NM_139027.6(ADAMTS13):c.2293C>T (p.Arg765Trp)
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.2509G>A (p.Gly837Ser) rs1554792055
NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met) rs281875302
NM_139027.6(ADAMTS13):c.2863dup (p.Trp955fs) rs1588198044
NM_139027.6(ADAMTS13):c.286C>G (p.His96Asp) rs121908467
NM_139027.6(ADAMTS13):c.291_319del (p.Glu98fs) rs387906345
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.3167C>T (p.Ala1056Val) rs376017677
NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter)
NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr) rs1554795391
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.3400+143del rs1060499780
NM_139027.6(ADAMTS13):c.3401-40C>T
NM_139027.6(ADAMTS13):c.3420C>A (p.His1140Gln)
NM_139027.6(ADAMTS13):c.3483T>C (p.Ile1161=) rs782235608
NM_139027.6(ADAMTS13):c.3522T>A (p.Leu1174=) rs1842731712
NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe) rs281875291
NM_139027.6(ADAMTS13):c.3573G>C (p.Arg1191=) rs1842757375
NM_139027.6(ADAMTS13):c.3602dup (p.Leu1202fs) rs387906341
NM_139027.6(ADAMTS13):c.3628A>T (p.Thr1210Ser) rs782798764
NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=) rs782463983
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.3937_4053del (p.Thr1313_Thr1351del) rs1554797078
NM_139027.6(ADAMTS13):c.3956A>G (p.Gln1319Arg) rs1842931730
NM_139027.6(ADAMTS13):c.414+1G>A rs786205077
NM_139027.6(ADAMTS13):c.415-1G>A rs1554785114
NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His) rs281875337
NM_139027.6(ADAMTS13):c.749C>T (p.Ala250Val) rs121908478
NM_139027.6(ADAMTS13):c.794G>C (p.Cys265Ser)
NM_139027.6(ADAMTS13):c.803G>C (p.Arg268Pro) rs121908477
NM_139027.6(ADAMTS13):c.816C>G (p.Ser272Arg) rs1344972182
NM_139027.6(ADAMTS13):c.824+5C>G rs886063633
NM_139027.6(ADAMTS13):c.824+8C>T rs781862563
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.905G>A (p.Gly302Asp) rs1232529325

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