ClinVar Miner

List of variants in gene ADAMTS13 reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
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.1200C>T (p.Cys400=) rs142570561 0.00082
NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg) rs144808448 0.00078
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.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.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_139025.4(ADAMTS13):c.-280G>A rs777585429 0.00016
NM_139027.6(ADAMTS13):c.-26C>T rs372036592 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.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.*41G>A rs369498637 0.00006
NM_139027.6(ADAMTS13):c.1435+11C>T rs377454829 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.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.3153C>T (p.Asp1051=) rs782748173 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.1979G>A (p.Arg660Gln) rs117943654 0.00003
NM_139027.6(ADAMTS13):c.1392C>T (p.Gly464=) rs782239711 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.3044+8A>C rs886063636 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.1518C>A (p.Thr506=) rs782315134 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.2912T>C (p.Val971Ala) rs978677428 0.00001
NM_139027.6(ADAMTS13):c.3400+136T>A rs782166349 0.00001
NM_139027.6(ADAMTS13):c.3400+175T>G rs782563004 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.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.-52C>G rs587771364
NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys) rs142214608
NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp) rs1840934191
NM_139027.6(ADAMTS13):c.1341G>A (p.Ser447=) rs587602874
NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr) rs375508823
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.1691C>A (p.Ala564Asp)
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.2011C>T (p.Pro671Ser)
NM_139027.6(ADAMTS13):c.2293C>T (p.Arg765Trp)
NM_139027.6(ADAMTS13):c.2365G>A (p.Ala789Thr) rs781957737
NM_139027.6(ADAMTS13):c.2509G>A (p.Gly837Ser) rs1554792055
NM_139027.6(ADAMTS13):c.2935del (p.Arg979fs) rs886063635
NM_139027.6(ADAMTS13):c.3167C>T (p.Ala1056Val) rs376017677
NM_139027.6(ADAMTS13):c.3292A>G (p.Thr1098Ala)
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.3573G>C (p.Arg1191=) rs1842757375
NM_139027.6(ADAMTS13):c.3628A>T (p.Thr1210Ser) rs782798764
NM_139027.6(ADAMTS13):c.3633C>G (p.Asn1211Lys)
NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=) rs782463983
NM_139027.6(ADAMTS13):c.3680T>C (p.Leu1227Pro)
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.3956A>G (p.Gln1319Arg) rs1842931730
NM_139027.6(ADAMTS13):c.4039G>A (p.Gly1347Ser)
NM_139027.6(ADAMTS13):c.449C>A (p.Ser150Tyr)
NM_139027.6(ADAMTS13):c.845T>A (p.Val282Glu)
NM_139027.6(ADAMTS13):c.905G>A (p.Gly302Asp) rs1232529325

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