ClinVar Miner

List of variants in gene ADAMTS13 reported as likely pathogenic for blood coagulation disease

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240 0.00209
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly) rs121908472 0.00012
NM_139027.6(ADAMTS13):c.3488G>A (p.Arg1163Gln) rs782649881 0.00004
NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His) rs121908471 0.00003
NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys) rs201457594 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.1584+5G>A rs782235228 0.00001
NM_139027.6(ADAMTS13):c.2068G>A (p.Ala690Thr) rs374840594 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.577C>T (p.Arg193Trp) rs281875287 0.00001
NM_139027.6(ADAMTS13):c.1266del (p.Cys423fs)
NM_139027.6(ADAMTS13):c.1308+2_1308+5del
NM_139027.6(ADAMTS13):c.1335_1336del (p.Met446fs) rs2130845614
NM_139027.6(ADAMTS13):c.1585-1G>C rs1554789680
NM_139027.6(ADAMTS13):c.1705+1G>A
NM_139027.6(ADAMTS13):c.1787-1G>A
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.2173C>T (p.Gln725Ter)
NM_139027.6(ADAMTS13):c.2237G>A (p.Trp746Ter)
NM_139027.6(ADAMTS13):c.2272T>C (p.Cys758Arg) rs281875300
NM_139027.6(ADAMTS13):c.2555del (p.Lys852fs)
NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met) rs281875302
NM_139027.6(ADAMTS13):c.280C>T (p.Gln94Ter)
NM_139027.6(ADAMTS13):c.305G>A (p.Arg102His)
NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr) rs1554795391
NM_139027.6(ADAMTS13):c.330+1G>A rs375415632
NM_139027.6(ADAMTS13):c.3400+143del rs1060499780
NM_139027.6(ADAMTS13):c.3400+161_3400+175del
NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe) rs281875291
NM_139027.6(ADAMTS13):c.3604_3605dup (p.Leu1202fs)
NM_139027.6(ADAMTS13):c.3657C>A (p.Cys1219Ter)
NM_139027.6(ADAMTS13):c.3724+1G>A rs1554796161
NM_139027.6(ADAMTS13):c.3937_4053del (p.Thr1313_Thr1351del) rs1554797078
NM_139027.6(ADAMTS13):c.415-1G>A rs1554785114
NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His) rs281875337
NM_139027.6(ADAMTS13):c.703G>T (p.Asp235Tyr)
NM_139027.6(ADAMTS13):c.725G>A (p.Cys242Tyr)
NM_139027.6(ADAMTS13):c.781del (p.Ala261fs)
NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter) rs2130769073

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