ClinVar Miner

List of variants in gene ADAMTS13 reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
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.2195C>T (p.Ala732Val) rs41314453 0.01000
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.1705+7G>A rs78739717 0.00233
NM_139027.6(ADAMTS13):c.3400+45C>T rs141494468 0.00225
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.1290C>T (p.Ala430=) rs138401488 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.1810G>A (p.Val604Ile) rs34256013 0.00036
NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val) rs145175796 0.00035
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.2915G>A (p.Arg972Gln) rs139951127 0.00009
NM_139027.6(ADAMTS13):c.3317C>T (p.Ala1106Val) rs370060687 0.00009
NM_139027.6(ADAMTS13):c.2861G>A (p.Arg954Gln) rs200273776 0.00008
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.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.2089G>A (p.Val697Met) rs367818172 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.539+6C>T rs782661001 0.00004
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile) rs121908470 0.00003
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.330+2T>C rs1474290508 0.00001
NM_139027.6(ADAMTS13):c.3400+136T>A rs782166349 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.1188C>G (p.Cys396Trp) rs1840934191
NM_139027.6(ADAMTS13):c.1309-20C>G rs2130845090
NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His) rs138699340
NM_139027.6(ADAMTS13):c.3167C>T (p.Ala1056Val) rs376017677
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.